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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Characterization of Human Disease Phenotypes Associated with Mutations in <italic>TREX1</italic>, <italic>RNASEH2A</italic>, <italic>RNASEH2B</italic>, <italic>RNASEH2C</italic>, <italic>SAMHD1</italic>, <italic>ADAR,</italic> and <italic>IFIH1</italic></title><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="A1">INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Chase, Diana S" sort="Chase, Diana S" uniqKey="Chase D" first="Diana S." last="Chase">Diana S. Chase</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Johanna Lowenstein" sort="Schmidt, Johanna Lowenstein" uniqKey="Schmidt J" first="Johanna Lowenstein" last="Schmidt">Johanna Lowenstein Schmidt</name><affiliation><nlm:aff id="A3">Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M. A." last="Forte">Gabriella M. A. Forte</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Gornall, Hannah L" sort="Gornall, Hannah L" uniqKey="Gornall H" first="Hannah L." last="Gornall">Hannah L. Gornall</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Oojageer, Anthony" sort="Oojageer, Anthony" uniqKey="Oojageer A" first="Anthony" last="Oojageer">Anthony Oojageer</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Anderson, Beverley" sort="Anderson, Beverley" uniqKey="Anderson B" first="Beverley" last="Anderson">Beverley Anderson</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Pizzino, Amy" sort="Pizzino, Amy" uniqKey="Pizzino A" first="Amy" last="Pizzino">Amy Pizzino</name><affiliation><nlm:aff id="A3">Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Helman, Guy" sort="Helman, Guy" uniqKey="Helman G" first="Guy" last="Helman">Guy Helman</name><affiliation><nlm:aff id="A3">Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Abdel Hamid, Mohamed S" sort="Abdel Hamid, Mohamed S" uniqKey="Abdel Hamid M" first="Mohamed S." last="Abdel-Hamid">Mohamed S. Abdel-Hamid</name><affiliation><nlm:aff id="A4">Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt</nlm:aff></affiliation></author><author><name sortKey="Abdel Salam, Ghada M" sort="Abdel Salam, Ghada M" uniqKey="Abdel Salam G" first="Ghada M." last="Abdel-Salam">Ghada M. Abdel-Salam</name><affiliation><nlm:aff id="A5">Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt</nlm:aff></affiliation></author><author><name sortKey="Ackroyd, Sam" sort="Ackroyd, Sam" uniqKey="Ackroyd S" first="Sam" last="Ackroyd">Sam Ackroyd</name><affiliation><nlm:aff id="A6">Department of Haematology, Bradford Royal Infirmary, Bradford, UK</nlm:aff></affiliation></author><author><name sortKey="Aeby, Alec" sort="Aeby, Alec" uniqKey="Aeby A" first="Alec" last="Aeby">Alec Aeby</name><affiliation><nlm:aff id="A7">Départment de Neuropédiatrie, Hôpital Erasme-Université Libre de Bruxelles (ULB), Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Agosta, Guillermo" sort="Agosta, Guillermo" uniqKey="Agosta G" first="Guillermo" last="Agosta">Guillermo Agosta</name><affiliation><nlm:aff id="A8">Child Neurology Division, Hospital Italiano de Buenos Aires, Beunos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Albin, Catherine" sort="Albin, Catherine" uniqKey="Albin C" first="Catherine" last="Albin">Catherine Albin</name><affiliation><nlm:aff id="A9">Department of Pediatric Neurology, Kaiser Permanente, Santa Clara, California</nlm:aff></affiliation></author><author><name sortKey="Allon Shalev, Stavit" sort="Allon Shalev, Stavit" uniqKey="Allon Shalev S" first="Stavit" last="Allon-Shalev">Stavit Allon-Shalev</name><affiliation><nlm:aff id="A10">The Genetic Institute, Emek Medical Center, Afula, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A11">The Rappaport Faculty of Medicine, Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Arellano, Montse" sort="Arellano, Montse" uniqKey="Arellano M" first="Montse" last="Arellano">Montse Arellano</name><affiliation><nlm:aff id="A12">Department of Pediatric Neurology, Hospital Universitari Mutua Terrassa, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Ariaudo, Giada" sort="Ariaudo, Giada" uniqKey="Ariaudo G" first="Giada" last="Ariaudo">Giada Ariaudo</name><affiliation><nlm:aff id="A13">Department of Brain and Behavioural Sciences, Child Neurology and Psychiatry Unit, University of Pavia, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Aswani, Vijay" sort="Aswani, Vijay" uniqKey="Aswani V" first="Vijay" last="Aswani">Vijay Aswani</name><affiliation><nlm:aff id="A14">Department of Internal Medicine and Pediatrics, Marshfield Clinic, Marshfield, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Babul Hirji, Riyana" sort="Babul Hirji, Riyana" uniqKey="Babul Hirji R" first="Riyana" last="Babul-Hirji">Riyana Babul-Hirji</name><affiliation><nlm:aff id="A15">Department of Molecular Genetics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Baildam, Eileen M" sort="Baildam, Eileen M" uniqKey="Baildam E" first="Eileen M." last="Baildam">Eileen M. Baildam</name><affiliation><nlm:aff id="A16">Department of Paediatric Rheumatology, Alder Hey Children’s National Health Service (NHS) Foundation Trust, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><affiliation><nlm:aff id="A17">Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bailey, Kathryn M" sort="Bailey, Kathryn M" uniqKey="Bailey K" first="Kathryn M." last="Bailey">Kathryn M. Bailey</name><affiliation><nlm:aff id="A18">Department of Paediatrics, University Hospitals Coventry and Warwickshire, Coventry, UK</nlm:aff></affiliation></author><author><name sortKey="Barnerias, Christine" sort="Barnerias, Christine" uniqKey="Barnerias C" first="Christine" last="Barnerias">Christine Barnerias</name><affiliation><nlm:aff id="A17">Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><affiliation><nlm:aff id="A19">Department of Genetics, CHU Angers, Angers, France</nlm:aff></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation><nlm:aff id="A20">Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Beresford, Michael W" sort="Beresford, Michael W" uniqKey="Beresford M" first="Michael W." last="Beresford">Michael W. Beresford</name><affiliation><nlm:aff id="A21">Department of Women’s and Children’s Health, Institute of Translational Medicine, University of Liverpool, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name><affiliation><nlm:aff id="A22">Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Bianchi, Marika" sort="Bianchi, Marika" uniqKey="Bianchi M" first="Marika" last="Bianchi">Marika Bianchi</name><affiliation><nlm:aff id="A23">Laboratory of Experimental Neurobiology, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name><affiliation><nlm:aff id="A24">Sorbonne Universités, UPMC Univ Paris 06, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">APHP, Department of Paediatric Neurology, Hopital Trousseau, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Inserm U1141, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Blair, Edward M" sort="Blair, Edward M" uniqKey="Blair E" first="Edward M." last="Blair">Edward M. Blair</name><affiliation><nlm:aff id="A27">Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Bloom, Miriam" sort="Bloom, Miriam" uniqKey="Bloom M" first="Miriam" last="Bloom">Miriam Bloom</name><affiliation><nlm:aff id="A28">Division of Hospitalist Medicine, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Burlina, Alberto B" sort="Burlina, Alberto B" uniqKey="Burlina A" first="Alberto B." last="Burlina">Alberto B. Burlina</name><affiliation><nlm:aff id="A29">Department of Pediatrics, Division of Inherited Metabolic Diseases, University Hospital, Padova, Italy</nlm:aff></affiliation></author><author><name sortKey="Carpanelli, Maria Luisa" sort="Carpanelli, Maria Luisa" uniqKey="Carpanelli M" first="Maria Luisa" last="Carpanelli">Maria Luisa Carpanelli</name><affiliation><nlm:aff id="A30">Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</nlm:aff></affiliation></author><author><name sortKey="Carvalho, Daniel R" sort="Carvalho, Daniel R" uniqKey="Carvalho D" first="Daniel R." last="Carvalho">Daniel R. Carvalho</name><affiliation><nlm:aff id="A31">Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil</nlm:aff></affiliation></author><author><name sortKey="Castro Gago, Manuel" sort="Castro Gago, Manuel" uniqKey="Castro Gago M" first="Manuel" last="Castro-Gago">Manuel Castro-Gago</name><affiliation><nlm:aff id="A32">Department of Pediatric Neurology, Hospital Clínico Universitario, University of Santiago de Compostela, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Cavallini, Anna" sort="Cavallini, Anna" uniqKey="Cavallini A" first="Anna" last="Cavallini">Anna Cavallini</name><affiliation><nlm:aff id="A33">Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy</nlm:aff></affiliation></author><author><name sortKey="Cereda, Cristina" sort="Cereda, Cristina" uniqKey="Cereda C" first="Cristina" last="Cereda">Cristina Cereda</name><affiliation><nlm:aff id="A23">Laboratory of Experimental Neurobiology, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Chandler, Kate E" sort="Chandler, Kate E" uniqKey="Chandler K" first="Kate E." last="Chandler">Kate E. Chandler</name><affiliation><nlm:aff id="A34">Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Chitayat, David A" sort="Chitayat, David A" uniqKey="Chitayat D" first="David A." last="Chitayat">David A. Chitayat</name><affiliation><nlm:aff id="A35">The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A36">Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Collins, Abigail E" sort="Collins, Abigail E" uniqKey="Collins A" first="Abigail E." last="Collins">Abigail E. Collins</name><affiliation><nlm:aff id="A37">Department of Pediatrics and Neurology, Children’s Hospital Colorado, University of Colorado, Colorado</nlm:aff></affiliation></author><author><name sortKey="Corcoles, Concepcion Sierra" sort="Corcoles, Concepcion Sierra" uniqKey="Corcoles C" first="Concepcion Sierra" last="Corcoles">Concepcion Sierra Corcoles</name><affiliation><nlm:aff id="A38">Department of Paediatric Neurology, Complejo Hospitalario Jaén, Jaén, Spain</nlm:aff></affiliation></author><author><name sortKey="Cordeiro, Nuno J V" sort="Cordeiro, Nuno J V" uniqKey="Cordeiro N" first="Nuno J. V." last="Cordeiro">Nuno J. V. Cordeiro</name><affiliation><nlm:aff id="A39">Department of Paediatrics, NHS Ayrshire & Arran, Irvine, UK</nlm:aff></affiliation></author><author><name sortKey="Crichiutti, Giovanni" sort="Crichiutti, Giovanni" uniqKey="Crichiutti G" first="Giovanni" last="Crichiutti">Giovanni Crichiutti</name><affiliation><nlm:aff id="A40">Paediatric Department, Azienda Ospedaliera Universitaria di Udine, Udine, Italy</nlm:aff></affiliation></author><author><name sortKey="Dabydeen, Lyvia" sort="Dabydeen, Lyvia" uniqKey="Dabydeen L" first="Lyvia" last="Dabydeen">Lyvia Dabydeen</name><affiliation><nlm:aff id="A41">Paediatric Neurology, Children’s Department, University Hospitals of Leicester NHS Trust, Leicester, UK</nlm:aff></affiliation></author><author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C." last="Dale">Russell C. Dale</name><affiliation><nlm:aff id="A42">Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="D Rrigo, Stefano" sort="D Rrigo, Stefano" uniqKey="D Rrigo S" first="Stefano" last="D Rrigo">Stefano D Rrigo</name><affiliation><nlm:aff id="A43">Child Neurology Department, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="De Goede, Christian G E L" sort="De Goede, Christian G E L" uniqKey="De Goede C" first="Christian G. E. L." last="De Goede">Christian G. E. L. De Goede</name><affiliation><nlm:aff id="A44">Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK</nlm:aff></affiliation></author><author><name sortKey="De Laet, Corinne" sort="De Laet, Corinne" uniqKey="De Laet C" first="Corinne" last="De Laet">Corinne De Laet</name><affiliation><nlm:aff id="A45">Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="De Waele, Liesbeth M H" sort="De Waele, Liesbeth M H" uniqKey="De Waele L" first="Liesbeth M. H." last="De Waele">Liesbeth M. H. De Waele</name><affiliation><nlm:aff id="A46">Department of Paediatric Neurology, University Hospitals Leuven, ku Leuven kulak, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Department of Development and Regeneration, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Denzler, Ines" sort="Denzler, Ines" uniqKey="Denzler I" first="Ines" last="Denzler">Ines Denzler</name><affiliation><nlm:aff id="A8">Child Neurology Division, Hospital Italiano de Buenos Aires, Beunos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation><nlm:aff id="A17">Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation><nlm:aff id="A48">Center for Human Genetics, University of Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:aff id="A49">Department of Pediatrics, Unit of Rare Diseases, Institute Gaslini, Genoa, Italy</nlm:aff></affiliation></author><author><name sortKey="Fahey, Michael C" sort="Fahey, Michael C" uniqKey="Fahey M" first="Michael C." last="Fahey">Michael C. Fahey</name><affiliation><nlm:aff id="A50">Department of Paediatrics, Monash University, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation><nlm:aff id="A51">Department of Clinical and Experimental Sciences, Child Neurology and Psychiatry Unit, University of Brescia, Brescia, Italy</nlm:aff></affiliation></author><author><name sortKey="Ferrie, Colin D" sort="Ferrie, Colin D" uniqKey="Ferrie C" first="Colin D." last="Ferrie">Colin D. Ferrie</name><affiliation><nlm:aff id="A52">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Figueiredo, Ant Nio" sort="Figueiredo, Ant Nio" uniqKey="Figueiredo A" first="Ant Nio" last="Figueiredo">Ant Nio Figueiredo</name><affiliation><nlm:aff id="A53">Department of Paediatrics, Hospital Professor Doutor Fernando Fonseca, EPE, Lisbon, Portugal</nlm:aff></affiliation></author><author><name sortKey="Gener, Blanca" sort="Gener, Blanca" uniqKey="Gener B" first="Blanca" last="Gener">Blanca Gener</name><affiliation><nlm:aff id="A54">Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, Baracaldo, Spain</nlm:aff></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:aff id="A55">Department of Medical Genetics, CHU Bordeaux, Hopital Pellegrin, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Gowrinathan, Nirmala R" sort="Gowrinathan, Nirmala R" uniqKey="Gowrinathan N" first="Nirmala R." last="Gowrinathan">Nirmala R. Gowrinathan</name><affiliation><nlm:aff id="A56">Department of Neurology, Kaiser Permanente, Los Angeles, California</nlm:aff></affiliation></author><author><name sortKey="Gowrishankar, Kalpana" sort="Gowrishankar, Kalpana" uniqKey="Gowrishankar K" first="Kalpana" last="Gowrishankar">Kalpana Gowrishankar</name><affiliation><nlm:aff id="A57">Department of Medical Genetics, Kanchi Kamakoti Child’s Trust Hospital, Chennai, India</nlm:aff></affiliation></author><author><name sortKey="Hanrahan, Donncha" sort="Hanrahan, Donncha" uniqKey="Hanrahan D" first="Donncha" last="Hanrahan">Donncha Hanrahan</name><affiliation><nlm:aff id="A58">Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK</nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="A59">Service de Génétique Médicale, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Kara, Bulent" sort="Kara, Bulent" uniqKey="Kara B" first="Bülent" last="Kara">Bülent Kara</name><affiliation><nlm:aff id="A60">Department of Paediatric Neurology, Department of Pediatrics, Kocaeli University Medicine Faculty, Kocaeli, Turkey</nlm:aff></affiliation></author><author><name sortKey="Khan, Nasaim" sort="Khan, Nasaim" uniqKey="Khan N" first="Nasaim" last="Khan">Nasaim Khan</name><affiliation><nlm:aff id="A61">Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name><affiliation><nlm:aff id="A62">Department of Paediatric Neurology, Temple St Children’s University Hospital, Dublin, Eire</nlm:aff></affiliation></author><author><name sortKey="Kirk, Edwin P" sort="Kirk, Edwin P" uniqKey="Kirk E" first="Edwin P." last="Kirk">Edwin P. Kirk</name><affiliation><nlm:aff id="A63">Department of Medical Genetics, Sydney Children’s Hospital, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation><nlm:aff id="A64">Department of Paediatric Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><affiliation><nlm:aff id="A46">Department of Paediatric Neurology, University Hospitals Leuven, ku Leuven kulak, Belgium</nlm:aff></affiliation></author><author><name sortKey="Landrieu, Pierre" sort="Landrieu, Pierre" uniqKey="Landrieu P" first="Pierre" last="Landrieu">Pierre Landrieu</name><affiliation><nlm:aff id="A65">CHU Bicêtre, Le Kremlin-Bicêtre, France</nlm:aff></affiliation></author><author><name sortKey="Lauffer, Heinz" sort="Lauffer, Heinz" uniqKey="Lauffer H" first="Heinz" last="Lauffer">Heinz Lauffer</name><affiliation><nlm:aff id="A66">Department of Neuropediatrics, Children’s Hospital, University of Greifswald, Greifswald, Germany</nlm:aff></affiliation></author><author><name sortKey="Laugel, Vincent" sort="Laugel, Vincent" uniqKey="Laugel V" first="Vincent" last="Laugel">Vincent Laugel</name><affiliation><nlm:aff id="A67">Department of Paediatric Neurology, Strasbourg—Hautepierre University Hospital, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="La Piana, Roberta" sort="La Piana, Roberta" uniqKey="La Piana R" first="Roberta" last="La Piana">Roberta La Piana</name><affiliation><nlm:aff id="A68">Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Lim, Ming J" sort="Lim, Ming J" uniqKey="Lim M" first="Ming J." last="Lim">Ming J. Lim</name><affiliation><nlm:aff id="A69">Department of Children’s Neurosciences, Evelina London Children’s Hospital, Kings Health Partners AHSC, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S.-M." last="Lin">Jean-Pierre S.-M. Lin</name><affiliation><nlm:aff id="A70">General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London, UK</nlm:aff></affiliation></author><author><name sortKey="Linnankivi, Tarja" sort="Linnankivi, Tarja" uniqKey="Linnankivi T" first="Tarja" last="Linnankivi">Tarja Linnankivi</name><affiliation><nlm:aff id="A71">Department of Paediatric Neurology, Helsinki University Central Hospital, Children’s Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Mackay, Mark T" sort="Mackay, Mark T" uniqKey="Mackay M" first="Mark T." last="Mackay">Mark T. Mackay</name><affiliation><nlm:aff id="A72">Department of Paediatric Neurology, The Royal Children’s Hospital, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Marom, Daphna R" sort="Marom, Daphna R" uniqKey="Marom D" first="Daphna R." last="Marom">Daphna R. Marom</name><affiliation><nlm:aff id="A73">Department of Paediatrics, Schneider Children’s Medical Center of Israel, Petach-Tikva, Israel</nlm:aff></affiliation></author><author><name sortKey="Lourenco, Charles Marques" sort="Lourenco, Charles Marques" uniqKey="Lourenco C" first="Charles Marques" last="Lourenço">Charles Marques Lourenço</name><affiliation><nlm:aff id="A74">Neurogenetics Unit, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Mckee, Shane A" sort="Mckee, Shane A" uniqKey="Mckee S" first="Shane A." last="Mckee">Shane A. Mckee</name><affiliation><nlm:aff id="A75">Department of Genetic Medicine, Belfast City Hospital, Belfast, UK</nlm:aff></affiliation></author><author><name sortKey="Moroni, Isabella" sort="Moroni, Isabella" uniqKey="Moroni I" first="Isabella" last="Moroni">Isabella Moroni</name><affiliation><nlm:aff id="A43">Child Neurology Department, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Morton, Jenny E V" sort="Morton, Jenny E V" uniqKey="Morton J" first="Jenny E. V." last="Morton">Jenny E. V. Morton</name><affiliation><nlm:aff id="A76">West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name><affiliation><nlm:aff id="A24">Sorbonne Universités, UPMC Univ Paris 06, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Murray, Kevin" sort="Murray, Kevin" uniqKey="Murray K" first="Kevin" last="Murray">Kevin Murray</name><affiliation><nlm:aff id="A77">Department of Rheumatology, Princess Margaret Hospital for Children, Perth, Australia</nlm:aff></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation><nlm:aff id="A17">Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nampoothiri, Sheela" sort="Nampoothiri, Sheela" uniqKey="Nampoothiri S" first="Sheela" last="Nampoothiri">Sheela Nampoothiri</name><affiliation><nlm:aff id="A78">Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India</nlm:aff></affiliation></author><author><name sortKey="Nunez Enamorado, Noemi" sort="Nunez Enamorado, Noemi" uniqKey="Nunez Enamorado N" first="Noemi" last="Nunez-Enamorado">Noemi Nunez-Enamorado</name><affiliation><nlm:aff id="A79">Department of Paediatric Neurology, 12 October University Hospital, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Oades, Patrick J" sort="Oades, Patrick J" uniqKey="Oades P" first="Patrick J." last="Oades">Patrick J. Oades</name><affiliation><nlm:aff id="A80">Department of Child Health, Royal Devon & Exeter Foundation NHS Trust, Exeter, UK</nlm:aff></affiliation></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><affiliation><nlm:aff id="A81">Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Ostergaard, John R" sort="Ostergaard, John R" uniqKey="Ostergaard J" first="John R." last="Ostergaard">John R. Ostergaard</name><affiliation><nlm:aff id="A82">Department of Pediatrics, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark</nlm:aff></affiliation></author><author><name sortKey="Perez Due As, Belen" sort="Perez Due As, Belen" uniqKey="Perez Due As B" first="Belén" last="Pérez-Due As">Belén Pérez-Due As</name><affiliation><nlm:aff id="A83">Department of Paediatric Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Prendiville, Julie S" sort="Prendiville, Julie S" uniqKey="Prendiville J" first="Julie S." last="Prendiville">Julie S. Prendiville</name><affiliation><nlm:aff id="A84">Department of Pediatric Dermatology, British Columbia’s Children’s Hospital, Vancouver, British Columbia, Canada</nlm:aff></affiliation></author><author><name sortKey="Ramesh, Venkateswaran" sort="Ramesh, Venkateswaran" uniqKey="Ramesh V" first="Venkateswaran" last="Ramesh">Venkateswaran Ramesh</name><affiliation><nlm:aff id="A85">Department of Paediatric Neurology, Great Northern Children’s Hospital, Newcastle upon Tyne, UK</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation><nlm:aff id="A86">Women and Children’s Division, Section for Child Neurology, Oslo University Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Regal, Luc" sort="Regal, Luc" uniqKey="Regal L" first="Luc" last="Régal">Luc Régal</name><affiliation><nlm:aff id="A87">Department of Pediatric Metabolic Disorders, University Hospital Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Ricci, Federica" sort="Ricci, Federica" uniqKey="Ricci F" first="Federica" last="Ricci">Federica Ricci</name><affiliation><nlm:aff id="A88">Department of Public Health and Pediatric Sciences, Child Neurology and Psychiatry Unit, Regina Margherita Children Hospital, Torino, Italy</nlm:aff></affiliation></author><author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><affiliation><nlm:aff id="A89">Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation><nlm:aff id="A24">Sorbonne Universités, UPMC Univ Paris 06, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">APHP, Department of Paediatric Neurology, Hopital Trousseau, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Inserm U1141, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><affiliation><nlm:aff id="A90">Neuropediatrie, Hopital Gui de Chauliac & INSERM U1051, Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Salvatici, Elisabetta" sort="Salvatici, Elisabetta" uniqKey="Salvatici E" first="Elisabetta" last="Salvatici">Elisabetta Salvatici</name><affiliation><nlm:aff id="A91">Department of Pediatrics, San Paolo Hospital, University of Milan, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Segers, Karin A" sort="Segers, Karin A" uniqKey="Segers K" first="Karin A." last="Segers">Karin A. Segers</name><affiliation><nlm:aff id="A92">Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium</nlm:aff></affiliation></author><author><name sortKey="Sinha, Gyanranjan P" sort="Sinha, Gyanranjan P" uniqKey="Sinha G" first="Gyanranjan P." last="Sinha">Gyanranjan P. Sinha</name><affiliation><nlm:aff id="A93">Department of Pediatrics, Manor Hospital, Walsall, UK</nlm:aff></affiliation></author><author><name sortKey="Soler, Doriette" sort="Soler, Doriette" uniqKey="Soler D" first="Doriette" last="Soler">Doriette Soler</name><affiliation><nlm:aff id="A94">Department of Paediatric Neurology, Mater Dei Hospital, Msida, Malta</nlm:aff></affiliation></author><author><name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name><affiliation><nlm:aff id="A10">The Genetic Institute, Emek Medical Center, Afula, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A11">The Rappaport Faculty of Medicine, Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Stodberg, Tommy I" sort="Stodberg, Tommy I" uniqKey="Stodberg T" first="Tommy I." last="Stödberg">Tommy I. Stödberg</name><affiliation><nlm:aff id="A95">Department of Paediatric Neurology, Karolinska University Hospital, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation><nlm:aff id="A96">Schneider’s Children Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J." last="Swoboda">Kathryn J. Swoboda</name><affiliation><nlm:aff id="A97">Neurology/Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City</nlm:aff></affiliation></author><author><name sortKey="Suri, Mohnish" sort="Suri, Mohnish" uniqKey="Suri M" first="Mohnish" last="Suri">Mohnish Suri</name><affiliation><nlm:aff id="A98">Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK</nlm:aff></affiliation></author><author><name sortKey="Tacke, Uta" sort="Tacke, Uta" uniqKey="Tacke U" first="Uta" last="Tacke">Uta Tacke</name><affiliation><nlm:aff id="A99">Department of Paediatric Neurology, University Children’s Hospital, Basel, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y." last="Tan">Tiong Y. Tan</name><affiliation><nlm:aff id="A100">Department of Paediatrics, Murdoch Children’s Research Institute, Victorian Clinical Genetics Services, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Naude, Johann Te Water" sort="Naude, Johann Te Water" uniqKey="Naude J" first="Johann Te Water" last="Naude">Johann Te Water Naude</name><affiliation><nlm:aff id="A101">Department of Child Health, University Hospital of Wales, Cardiff, UK</nlm:aff></affiliation></author><author><name sortKey="Teik, Keng Wee" sort="Teik, Keng Wee" uniqKey="Teik K" first="Keng Wee" last="Teik">Keng Wee Teik</name><affiliation><nlm:aff id="A102">Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Thomas, Maya Mary" sort="Thomas, Maya Mary" uniqKey="Thomas M" first="Maya Mary" last="Thomas">Maya Mary Thomas</name><affiliation><nlm:aff id="A103">Department of Neurological Sciences, Christian Medical College, Tamil Nadu, India</nlm:aff></affiliation></author><author><name sortKey="Till, Marianne" sort="Till, Marianne" uniqKey="Till M" first="Marianne" last="Till">Marianne Till</name><affiliation><nlm:aff id="A104">Service de Génétique, GHE, Hospices Civils de Lyon, Lyon-Bron, France</nlm:aff></affiliation></author><author><name sortKey="Tonduti, Davide" sort="Tonduti, Davide" uniqKey="Tonduti D" first="Davide" last="Tonduti">Davide Tonduti</name><affiliation><nlm:aff id="A13">Department of Brain and Behavioural Sciences, Child Neurology and Psychiatry Unit, University of Pavia, Pavia, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A43">Child Neurology Department, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation><nlm:aff id="A105">Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Institute, San Giovanni Rotondo, Italy</nlm:aff></affiliation></author><author><name sortKey="Van Coster, Rudy Noel" sort="Van Coster, Rudy Noel" uniqKey="Van Coster R" first="Rudy Noel" last="Van Coster">Rudy Noel Van Coster</name><affiliation><nlm:aff id="A106">Department of Pediatrics, Division of Pediatric Neurology, University Hospital Ghent, Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Der Knaap, Marjo S" sort="Van Der Knaap, Marjo S" uniqKey="Van Der Knaap M" first="Marjo S." last="Van Der Knaap">Marjo S. Van Der Knaap</name><affiliation><nlm:aff id="A107">Department of Paediatric Neurology, VU University Medical Center, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><affiliation><nlm:aff id="A108">Department of Paediatric Neurology, Royal Manchester Children’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Vijzelaar, Raymon" sort="Vijzelaar, Raymon" uniqKey="Vijzelaar R" first="Raymon" last="Vijzelaar">Raymon Vijzelaar</name><affiliation><nlm:aff id="A109">MRC-Holland, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation><nlm:aff id="A76">West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Wallace, Geoffrey B" sort="Wallace, Geoffrey B" uniqKey="Wallace G" first="Geoffrey B." last="Wallace">Geoffrey B. Wallace</name><affiliation><nlm:aff id="A110">Department of Neuroscience, Mater Children’s Hospital, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation><nlm:aff id="A111">Department of Paediatric Neurology, Birmingham Children’s Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Webb, Hannah J" sort="Webb, Hannah J" uniqKey="Webb H" first="Hannah J." last="Webb">Hannah J. Webb</name><affiliation><nlm:aff id="A112">Child Development Centre, St Luke’s Hospital, Bradford Teaching Hospitals NHS Trust, Bradford, UK</nlm:aff></affiliation></author><author><name sortKey="Whitehouse, William P" sort="Whitehouse, William P" uniqKey="Whitehouse W" first="William P." last="Whitehouse">William P. Whitehouse</name><affiliation><nlm:aff id="A113">Department of Paediatric Neurology, Nottingham University Hospitals NHS Trust, Nottingham, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A114">School of Medicine, University of Nottingham, Nottingham, UK</nlm:aff></affiliation></author><author><name sortKey="Whitney, Robyn N" sort="Whitney, Robyn N" uniqKey="Whitney R" first="Robyn N." last="Whitney">Robyn N. Whitney</name><affiliation><nlm:aff id="A115">Department of Pediatrics, Division of Pediatric Neurology, McMaster Children’s Hospital, McMaster University, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Zaki, Maha S" sort="Zaki, Maha S" uniqKey="Zaki M" first="Maha S." last="Zaki">Maha S. Zaki</name><affiliation><nlm:aff id="A5">Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt</nlm:aff></affiliation></author><author><name sortKey="Zuberi, Sameer M" sort="Zuberi, Sameer M" uniqKey="Zuberi S" first="Sameer M." last="Zuberi">Sameer M. Zuberi</name><affiliation><nlm:aff id="A116">Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Glasgow, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A117">School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H." last="Livingston">John H. Livingston</name><affiliation><nlm:aff id="A52">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><affiliation><nlm:aff id="A118">Service de Virologie, Université Paris Descartes, Inserm U1016, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A119">AP-HP Hôpital Cochin, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation><nlm:aff id="A118">Service de Virologie, Université Paris Descartes, Inserm U1016, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation><nlm:aff id="A3">Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation><nlm:aff id="A81">Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I." last="Rice">Gillian I. Rice</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25604658</idno><idno type="pmc">4382202</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202</idno><idno type="RBID">PMC:4382202</idno><idno type="doi">10.1002/ajmg.a.36887</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001E31</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E31</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Characterization of Human Disease Phenotypes Associated with Mutations in <italic>TREX1</italic>, <italic>RNASEH2A</italic>, <italic>RNASEH2B</italic>, <italic>RNASEH2C</italic>, <italic>SAMHD1</italic>, <italic>ADAR,</italic> and <italic>IFIH1</italic></title><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="A1">INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Chase, Diana S" sort="Chase, Diana S" uniqKey="Chase D" first="Diana S." last="Chase">Diana S. Chase</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Johanna Lowenstein" sort="Schmidt, Johanna Lowenstein" uniqKey="Schmidt J" first="Johanna Lowenstein" last="Schmidt">Johanna Lowenstein Schmidt</name><affiliation><nlm:aff id="A3">Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M. A." last="Forte">Gabriella M. A. Forte</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Gornall, Hannah L" sort="Gornall, Hannah L" uniqKey="Gornall H" first="Hannah L." last="Gornall">Hannah L. Gornall</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Oojageer, Anthony" sort="Oojageer, Anthony" uniqKey="Oojageer A" first="Anthony" last="Oojageer">Anthony Oojageer</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Anderson, Beverley" sort="Anderson, Beverley" uniqKey="Anderson B" first="Beverley" last="Anderson">Beverley Anderson</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Pizzino, Amy" sort="Pizzino, Amy" uniqKey="Pizzino A" first="Amy" last="Pizzino">Amy Pizzino</name><affiliation><nlm:aff id="A3">Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Helman, Guy" sort="Helman, Guy" uniqKey="Helman G" first="Guy" last="Helman">Guy Helman</name><affiliation><nlm:aff id="A3">Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Abdel Hamid, Mohamed S" sort="Abdel Hamid, Mohamed S" uniqKey="Abdel Hamid M" first="Mohamed S." last="Abdel-Hamid">Mohamed S. Abdel-Hamid</name><affiliation><nlm:aff id="A4">Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt</nlm:aff></affiliation></author><author><name sortKey="Abdel Salam, Ghada M" sort="Abdel Salam, Ghada M" uniqKey="Abdel Salam G" first="Ghada M." last="Abdel-Salam">Ghada M. Abdel-Salam</name><affiliation><nlm:aff id="A5">Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt</nlm:aff></affiliation></author><author><name sortKey="Ackroyd, Sam" sort="Ackroyd, Sam" uniqKey="Ackroyd S" first="Sam" last="Ackroyd">Sam Ackroyd</name><affiliation><nlm:aff id="A6">Department of Haematology, Bradford Royal Infirmary, Bradford, UK</nlm:aff></affiliation></author><author><name sortKey="Aeby, Alec" sort="Aeby, Alec" uniqKey="Aeby A" first="Alec" last="Aeby">Alec Aeby</name><affiliation><nlm:aff id="A7">Départment de Neuropédiatrie, Hôpital Erasme-Université Libre de Bruxelles (ULB), Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Agosta, Guillermo" sort="Agosta, Guillermo" uniqKey="Agosta G" first="Guillermo" last="Agosta">Guillermo Agosta</name><affiliation><nlm:aff id="A8">Child Neurology Division, Hospital Italiano de Buenos Aires, Beunos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Albin, Catherine" sort="Albin, Catherine" uniqKey="Albin C" first="Catherine" last="Albin">Catherine Albin</name><affiliation><nlm:aff id="A9">Department of Pediatric Neurology, Kaiser Permanente, Santa Clara, California</nlm:aff></affiliation></author><author><name sortKey="Allon Shalev, Stavit" sort="Allon Shalev, Stavit" uniqKey="Allon Shalev S" first="Stavit" last="Allon-Shalev">Stavit Allon-Shalev</name><affiliation><nlm:aff id="A10">The Genetic Institute, Emek Medical Center, Afula, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A11">The Rappaport Faculty of Medicine, Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Arellano, Montse" sort="Arellano, Montse" uniqKey="Arellano M" first="Montse" last="Arellano">Montse Arellano</name><affiliation><nlm:aff id="A12">Department of Pediatric Neurology, Hospital Universitari Mutua Terrassa, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Ariaudo, Giada" sort="Ariaudo, Giada" uniqKey="Ariaudo G" first="Giada" last="Ariaudo">Giada Ariaudo</name><affiliation><nlm:aff id="A13">Department of Brain and Behavioural Sciences, Child Neurology and Psychiatry Unit, University of Pavia, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Aswani, Vijay" sort="Aswani, Vijay" uniqKey="Aswani V" first="Vijay" last="Aswani">Vijay Aswani</name><affiliation><nlm:aff id="A14">Department of Internal Medicine and Pediatrics, Marshfield Clinic, Marshfield, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Babul Hirji, Riyana" sort="Babul Hirji, Riyana" uniqKey="Babul Hirji R" first="Riyana" last="Babul-Hirji">Riyana Babul-Hirji</name><affiliation><nlm:aff id="A15">Department of Molecular Genetics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Baildam, Eileen M" sort="Baildam, Eileen M" uniqKey="Baildam E" first="Eileen M." last="Baildam">Eileen M. Baildam</name><affiliation><nlm:aff id="A16">Department of Paediatric Rheumatology, Alder Hey Children’s National Health Service (NHS) Foundation Trust, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><affiliation><nlm:aff id="A17">Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bailey, Kathryn M" sort="Bailey, Kathryn M" uniqKey="Bailey K" first="Kathryn M." last="Bailey">Kathryn M. Bailey</name><affiliation><nlm:aff id="A18">Department of Paediatrics, University Hospitals Coventry and Warwickshire, Coventry, UK</nlm:aff></affiliation></author><author><name sortKey="Barnerias, Christine" sort="Barnerias, Christine" uniqKey="Barnerias C" first="Christine" last="Barnerias">Christine Barnerias</name><affiliation><nlm:aff id="A17">Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><affiliation><nlm:aff id="A19">Department of Genetics, CHU Angers, Angers, France</nlm:aff></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation><nlm:aff id="A20">Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Beresford, Michael W" sort="Beresford, Michael W" uniqKey="Beresford M" first="Michael W." last="Beresford">Michael W. Beresford</name><affiliation><nlm:aff id="A21">Department of Women’s and Children’s Health, Institute of Translational Medicine, University of Liverpool, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name><affiliation><nlm:aff id="A22">Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Bianchi, Marika" sort="Bianchi, Marika" uniqKey="Bianchi M" first="Marika" last="Bianchi">Marika Bianchi</name><affiliation><nlm:aff id="A23">Laboratory of Experimental Neurobiology, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name><affiliation><nlm:aff id="A24">Sorbonne Universités, UPMC Univ Paris 06, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">APHP, Department of Paediatric Neurology, Hopital Trousseau, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Inserm U1141, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Blair, Edward M" sort="Blair, Edward M" uniqKey="Blair E" first="Edward M." last="Blair">Edward M. Blair</name><affiliation><nlm:aff id="A27">Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Bloom, Miriam" sort="Bloom, Miriam" uniqKey="Bloom M" first="Miriam" last="Bloom">Miriam Bloom</name><affiliation><nlm:aff id="A28">Division of Hospitalist Medicine, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Burlina, Alberto B" sort="Burlina, Alberto B" uniqKey="Burlina A" first="Alberto B." last="Burlina">Alberto B. Burlina</name><affiliation><nlm:aff id="A29">Department of Pediatrics, Division of Inherited Metabolic Diseases, University Hospital, Padova, Italy</nlm:aff></affiliation></author><author><name sortKey="Carpanelli, Maria Luisa" sort="Carpanelli, Maria Luisa" uniqKey="Carpanelli M" first="Maria Luisa" last="Carpanelli">Maria Luisa Carpanelli</name><affiliation><nlm:aff id="A30">Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</nlm:aff></affiliation></author><author><name sortKey="Carvalho, Daniel R" sort="Carvalho, Daniel R" uniqKey="Carvalho D" first="Daniel R." last="Carvalho">Daniel R. Carvalho</name><affiliation><nlm:aff id="A31">Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil</nlm:aff></affiliation></author><author><name sortKey="Castro Gago, Manuel" sort="Castro Gago, Manuel" uniqKey="Castro Gago M" first="Manuel" last="Castro-Gago">Manuel Castro-Gago</name><affiliation><nlm:aff id="A32">Department of Pediatric Neurology, Hospital Clínico Universitario, University of Santiago de Compostela, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Cavallini, Anna" sort="Cavallini, Anna" uniqKey="Cavallini A" first="Anna" last="Cavallini">Anna Cavallini</name><affiliation><nlm:aff id="A33">Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy</nlm:aff></affiliation></author><author><name sortKey="Cereda, Cristina" sort="Cereda, Cristina" uniqKey="Cereda C" first="Cristina" last="Cereda">Cristina Cereda</name><affiliation><nlm:aff id="A23">Laboratory of Experimental Neurobiology, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Chandler, Kate E" sort="Chandler, Kate E" uniqKey="Chandler K" first="Kate E." last="Chandler">Kate E. Chandler</name><affiliation><nlm:aff id="A34">Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Chitayat, David A" sort="Chitayat, David A" uniqKey="Chitayat D" first="David A." last="Chitayat">David A. Chitayat</name><affiliation><nlm:aff id="A35">The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A36">Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Collins, Abigail E" sort="Collins, Abigail E" uniqKey="Collins A" first="Abigail E." last="Collins">Abigail E. Collins</name><affiliation><nlm:aff id="A37">Department of Pediatrics and Neurology, Children’s Hospital Colorado, University of Colorado, Colorado</nlm:aff></affiliation></author><author><name sortKey="Corcoles, Concepcion Sierra" sort="Corcoles, Concepcion Sierra" uniqKey="Corcoles C" first="Concepcion Sierra" last="Corcoles">Concepcion Sierra Corcoles</name><affiliation><nlm:aff id="A38">Department of Paediatric Neurology, Complejo Hospitalario Jaén, Jaén, Spain</nlm:aff></affiliation></author><author><name sortKey="Cordeiro, Nuno J V" sort="Cordeiro, Nuno J V" uniqKey="Cordeiro N" first="Nuno J. V." last="Cordeiro">Nuno J. V. Cordeiro</name><affiliation><nlm:aff id="A39">Department of Paediatrics, NHS Ayrshire & Arran, Irvine, UK</nlm:aff></affiliation></author><author><name sortKey="Crichiutti, Giovanni" sort="Crichiutti, Giovanni" uniqKey="Crichiutti G" first="Giovanni" last="Crichiutti">Giovanni Crichiutti</name><affiliation><nlm:aff id="A40">Paediatric Department, Azienda Ospedaliera Universitaria di Udine, Udine, Italy</nlm:aff></affiliation></author><author><name sortKey="Dabydeen, Lyvia" sort="Dabydeen, Lyvia" uniqKey="Dabydeen L" first="Lyvia" last="Dabydeen">Lyvia Dabydeen</name><affiliation><nlm:aff id="A41">Paediatric Neurology, Children’s Department, University Hospitals of Leicester NHS Trust, Leicester, UK</nlm:aff></affiliation></author><author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C." last="Dale">Russell C. Dale</name><affiliation><nlm:aff id="A42">Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="D Rrigo, Stefano" sort="D Rrigo, Stefano" uniqKey="D Rrigo S" first="Stefano" last="D Rrigo">Stefano D Rrigo</name><affiliation><nlm:aff id="A43">Child Neurology Department, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="De Goede, Christian G E L" sort="De Goede, Christian G E L" uniqKey="De Goede C" first="Christian G. E. L." last="De Goede">Christian G. E. L. De Goede</name><affiliation><nlm:aff id="A44">Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK</nlm:aff></affiliation></author><author><name sortKey="De Laet, Corinne" sort="De Laet, Corinne" uniqKey="De Laet C" first="Corinne" last="De Laet">Corinne De Laet</name><affiliation><nlm:aff id="A45">Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="De Waele, Liesbeth M H" sort="De Waele, Liesbeth M H" uniqKey="De Waele L" first="Liesbeth M. H." last="De Waele">Liesbeth M. H. De Waele</name><affiliation><nlm:aff id="A46">Department of Paediatric Neurology, University Hospitals Leuven, ku Leuven kulak, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Department of Development and Regeneration, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Denzler, Ines" sort="Denzler, Ines" uniqKey="Denzler I" first="Ines" last="Denzler">Ines Denzler</name><affiliation><nlm:aff id="A8">Child Neurology Division, Hospital Italiano de Buenos Aires, Beunos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation><nlm:aff id="A17">Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation><nlm:aff id="A48">Center for Human Genetics, University of Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:aff id="A49">Department of Pediatrics, Unit of Rare Diseases, Institute Gaslini, Genoa, Italy</nlm:aff></affiliation></author><author><name sortKey="Fahey, Michael C" sort="Fahey, Michael C" uniqKey="Fahey M" first="Michael C." last="Fahey">Michael C. Fahey</name><affiliation><nlm:aff id="A50">Department of Paediatrics, Monash University, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation><nlm:aff id="A51">Department of Clinical and Experimental Sciences, Child Neurology and Psychiatry Unit, University of Brescia, Brescia, Italy</nlm:aff></affiliation></author><author><name sortKey="Ferrie, Colin D" sort="Ferrie, Colin D" uniqKey="Ferrie C" first="Colin D." last="Ferrie">Colin D. Ferrie</name><affiliation><nlm:aff id="A52">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Figueiredo, Ant Nio" sort="Figueiredo, Ant Nio" uniqKey="Figueiredo A" first="Ant Nio" last="Figueiredo">Ant Nio Figueiredo</name><affiliation><nlm:aff id="A53">Department of Paediatrics, Hospital Professor Doutor Fernando Fonseca, EPE, Lisbon, Portugal</nlm:aff></affiliation></author><author><name sortKey="Gener, Blanca" sort="Gener, Blanca" uniqKey="Gener B" first="Blanca" last="Gener">Blanca Gener</name><affiliation><nlm:aff id="A54">Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, Baracaldo, Spain</nlm:aff></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:aff id="A55">Department of Medical Genetics, CHU Bordeaux, Hopital Pellegrin, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Gowrinathan, Nirmala R" sort="Gowrinathan, Nirmala R" uniqKey="Gowrinathan N" first="Nirmala R." last="Gowrinathan">Nirmala R. Gowrinathan</name><affiliation><nlm:aff id="A56">Department of Neurology, Kaiser Permanente, Los Angeles, California</nlm:aff></affiliation></author><author><name sortKey="Gowrishankar, Kalpana" sort="Gowrishankar, Kalpana" uniqKey="Gowrishankar K" first="Kalpana" last="Gowrishankar">Kalpana Gowrishankar</name><affiliation><nlm:aff id="A57">Department of Medical Genetics, Kanchi Kamakoti Child’s Trust Hospital, Chennai, India</nlm:aff></affiliation></author><author><name sortKey="Hanrahan, Donncha" sort="Hanrahan, Donncha" uniqKey="Hanrahan D" first="Donncha" last="Hanrahan">Donncha Hanrahan</name><affiliation><nlm:aff id="A58">Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK</nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="A59">Service de Génétique Médicale, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Kara, Bulent" sort="Kara, Bulent" uniqKey="Kara B" first="Bülent" last="Kara">Bülent Kara</name><affiliation><nlm:aff id="A60">Department of Paediatric Neurology, Department of Pediatrics, Kocaeli University Medicine Faculty, Kocaeli, Turkey</nlm:aff></affiliation></author><author><name sortKey="Khan, Nasaim" sort="Khan, Nasaim" uniqKey="Khan N" first="Nasaim" last="Khan">Nasaim Khan</name><affiliation><nlm:aff id="A61">Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name><affiliation><nlm:aff id="A62">Department of Paediatric Neurology, Temple St Children’s University Hospital, Dublin, Eire</nlm:aff></affiliation></author><author><name sortKey="Kirk, Edwin P" sort="Kirk, Edwin P" uniqKey="Kirk E" first="Edwin P." last="Kirk">Edwin P. Kirk</name><affiliation><nlm:aff id="A63">Department of Medical Genetics, Sydney Children’s Hospital, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation><nlm:aff id="A64">Department of Paediatric Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><affiliation><nlm:aff id="A46">Department of Paediatric Neurology, University Hospitals Leuven, ku Leuven kulak, Belgium</nlm:aff></affiliation></author><author><name sortKey="Landrieu, Pierre" sort="Landrieu, Pierre" uniqKey="Landrieu P" first="Pierre" last="Landrieu">Pierre Landrieu</name><affiliation><nlm:aff id="A65">CHU Bicêtre, Le Kremlin-Bicêtre, France</nlm:aff></affiliation></author><author><name sortKey="Lauffer, Heinz" sort="Lauffer, Heinz" uniqKey="Lauffer H" first="Heinz" last="Lauffer">Heinz Lauffer</name><affiliation><nlm:aff id="A66">Department of Neuropediatrics, Children’s Hospital, University of Greifswald, Greifswald, Germany</nlm:aff></affiliation></author><author><name sortKey="Laugel, Vincent" sort="Laugel, Vincent" uniqKey="Laugel V" first="Vincent" last="Laugel">Vincent Laugel</name><affiliation><nlm:aff id="A67">Department of Paediatric Neurology, Strasbourg—Hautepierre University Hospital, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="La Piana, Roberta" sort="La Piana, Roberta" uniqKey="La Piana R" first="Roberta" last="La Piana">Roberta La Piana</name><affiliation><nlm:aff id="A68">Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Lim, Ming J" sort="Lim, Ming J" uniqKey="Lim M" first="Ming J." last="Lim">Ming J. Lim</name><affiliation><nlm:aff id="A69">Department of Children’s Neurosciences, Evelina London Children’s Hospital, Kings Health Partners AHSC, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S.-M." last="Lin">Jean-Pierre S.-M. Lin</name><affiliation><nlm:aff id="A70">General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London, UK</nlm:aff></affiliation></author><author><name sortKey="Linnankivi, Tarja" sort="Linnankivi, Tarja" uniqKey="Linnankivi T" first="Tarja" last="Linnankivi">Tarja Linnankivi</name><affiliation><nlm:aff id="A71">Department of Paediatric Neurology, Helsinki University Central Hospital, Children’s Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Mackay, Mark T" sort="Mackay, Mark T" uniqKey="Mackay M" first="Mark T." last="Mackay">Mark T. Mackay</name><affiliation><nlm:aff id="A72">Department of Paediatric Neurology, The Royal Children’s Hospital, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Marom, Daphna R" sort="Marom, Daphna R" uniqKey="Marom D" first="Daphna R." last="Marom">Daphna R. Marom</name><affiliation><nlm:aff id="A73">Department of Paediatrics, Schneider Children’s Medical Center of Israel, Petach-Tikva, Israel</nlm:aff></affiliation></author><author><name sortKey="Lourenco, Charles Marques" sort="Lourenco, Charles Marques" uniqKey="Lourenco C" first="Charles Marques" last="Lourenço">Charles Marques Lourenço</name><affiliation><nlm:aff id="A74">Neurogenetics Unit, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Mckee, Shane A" sort="Mckee, Shane A" uniqKey="Mckee S" first="Shane A." last="Mckee">Shane A. Mckee</name><affiliation><nlm:aff id="A75">Department of Genetic Medicine, Belfast City Hospital, Belfast, UK</nlm:aff></affiliation></author><author><name sortKey="Moroni, Isabella" sort="Moroni, Isabella" uniqKey="Moroni I" first="Isabella" last="Moroni">Isabella Moroni</name><affiliation><nlm:aff id="A43">Child Neurology Department, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Morton, Jenny E V" sort="Morton, Jenny E V" uniqKey="Morton J" first="Jenny E. V." last="Morton">Jenny E. V. Morton</name><affiliation><nlm:aff id="A76">West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name><affiliation><nlm:aff id="A24">Sorbonne Universités, UPMC Univ Paris 06, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Murray, Kevin" sort="Murray, Kevin" uniqKey="Murray K" first="Kevin" last="Murray">Kevin Murray</name><affiliation><nlm:aff id="A77">Department of Rheumatology, Princess Margaret Hospital for Children, Perth, Australia</nlm:aff></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation><nlm:aff id="A17">Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nampoothiri, Sheela" sort="Nampoothiri, Sheela" uniqKey="Nampoothiri S" first="Sheela" last="Nampoothiri">Sheela Nampoothiri</name><affiliation><nlm:aff id="A78">Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India</nlm:aff></affiliation></author><author><name sortKey="Nunez Enamorado, Noemi" sort="Nunez Enamorado, Noemi" uniqKey="Nunez Enamorado N" first="Noemi" last="Nunez-Enamorado">Noemi Nunez-Enamorado</name><affiliation><nlm:aff id="A79">Department of Paediatric Neurology, 12 October University Hospital, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Oades, Patrick J" sort="Oades, Patrick J" uniqKey="Oades P" first="Patrick J." last="Oades">Patrick J. Oades</name><affiliation><nlm:aff id="A80">Department of Child Health, Royal Devon & Exeter Foundation NHS Trust, Exeter, UK</nlm:aff></affiliation></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><affiliation><nlm:aff id="A81">Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Ostergaard, John R" sort="Ostergaard, John R" uniqKey="Ostergaard J" first="John R." last="Ostergaard">John R. Ostergaard</name><affiliation><nlm:aff id="A82">Department of Pediatrics, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark</nlm:aff></affiliation></author><author><name sortKey="Perez Due As, Belen" sort="Perez Due As, Belen" uniqKey="Perez Due As B" first="Belén" last="Pérez-Due As">Belén Pérez-Due As</name><affiliation><nlm:aff id="A83">Department of Paediatric Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Prendiville, Julie S" sort="Prendiville, Julie S" uniqKey="Prendiville J" first="Julie S." last="Prendiville">Julie S. Prendiville</name><affiliation><nlm:aff id="A84">Department of Pediatric Dermatology, British Columbia’s Children’s Hospital, Vancouver, British Columbia, Canada</nlm:aff></affiliation></author><author><name sortKey="Ramesh, Venkateswaran" sort="Ramesh, Venkateswaran" uniqKey="Ramesh V" first="Venkateswaran" last="Ramesh">Venkateswaran Ramesh</name><affiliation><nlm:aff id="A85">Department of Paediatric Neurology, Great Northern Children’s Hospital, Newcastle upon Tyne, UK</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation><nlm:aff id="A86">Women and Children’s Division, Section for Child Neurology, Oslo University Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Regal, Luc" sort="Regal, Luc" uniqKey="Regal L" first="Luc" last="Régal">Luc Régal</name><affiliation><nlm:aff id="A87">Department of Pediatric Metabolic Disorders, University Hospital Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Ricci, Federica" sort="Ricci, Federica" uniqKey="Ricci F" first="Federica" last="Ricci">Federica Ricci</name><affiliation><nlm:aff id="A88">Department of Public Health and Pediatric Sciences, Child Neurology and Psychiatry Unit, Regina Margherita Children Hospital, Torino, Italy</nlm:aff></affiliation></author><author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><affiliation><nlm:aff id="A89">Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation><nlm:aff id="A24">Sorbonne Universités, UPMC Univ Paris 06, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">APHP, Department of Paediatric Neurology, Hopital Trousseau, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Inserm U1141, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><affiliation><nlm:aff id="A90">Neuropediatrie, Hopital Gui de Chauliac & INSERM U1051, Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Salvatici, Elisabetta" sort="Salvatici, Elisabetta" uniqKey="Salvatici E" first="Elisabetta" last="Salvatici">Elisabetta Salvatici</name><affiliation><nlm:aff id="A91">Department of Pediatrics, San Paolo Hospital, University of Milan, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Segers, Karin A" sort="Segers, Karin A" uniqKey="Segers K" first="Karin A." last="Segers">Karin A. Segers</name><affiliation><nlm:aff id="A92">Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium</nlm:aff></affiliation></author><author><name sortKey="Sinha, Gyanranjan P" sort="Sinha, Gyanranjan P" uniqKey="Sinha G" first="Gyanranjan P." last="Sinha">Gyanranjan P. Sinha</name><affiliation><nlm:aff id="A93">Department of Pediatrics, Manor Hospital, Walsall, UK</nlm:aff></affiliation></author><author><name sortKey="Soler, Doriette" sort="Soler, Doriette" uniqKey="Soler D" first="Doriette" last="Soler">Doriette Soler</name><affiliation><nlm:aff id="A94">Department of Paediatric Neurology, Mater Dei Hospital, Msida, Malta</nlm:aff></affiliation></author><author><name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name><affiliation><nlm:aff id="A10">The Genetic Institute, Emek Medical Center, Afula, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A11">The Rappaport Faculty of Medicine, Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Stodberg, Tommy I" sort="Stodberg, Tommy I" uniqKey="Stodberg T" first="Tommy I." last="Stödberg">Tommy I. Stödberg</name><affiliation><nlm:aff id="A95">Department of Paediatric Neurology, Karolinska University Hospital, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation><nlm:aff id="A96">Schneider’s Children Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J." last="Swoboda">Kathryn J. Swoboda</name><affiliation><nlm:aff id="A97">Neurology/Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City</nlm:aff></affiliation></author><author><name sortKey="Suri, Mohnish" sort="Suri, Mohnish" uniqKey="Suri M" first="Mohnish" last="Suri">Mohnish Suri</name><affiliation><nlm:aff id="A98">Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK</nlm:aff></affiliation></author><author><name sortKey="Tacke, Uta" sort="Tacke, Uta" uniqKey="Tacke U" first="Uta" last="Tacke">Uta Tacke</name><affiliation><nlm:aff id="A99">Department of Paediatric Neurology, University Children’s Hospital, Basel, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y." last="Tan">Tiong Y. Tan</name><affiliation><nlm:aff id="A100">Department of Paediatrics, Murdoch Children’s Research Institute, Victorian Clinical Genetics Services, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Naude, Johann Te Water" sort="Naude, Johann Te Water" uniqKey="Naude J" first="Johann Te Water" last="Naude">Johann Te Water Naude</name><affiliation><nlm:aff id="A101">Department of Child Health, University Hospital of Wales, Cardiff, UK</nlm:aff></affiliation></author><author><name sortKey="Teik, Keng Wee" sort="Teik, Keng Wee" uniqKey="Teik K" first="Keng Wee" last="Teik">Keng Wee Teik</name><affiliation><nlm:aff id="A102">Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Thomas, Maya Mary" sort="Thomas, Maya Mary" uniqKey="Thomas M" first="Maya Mary" last="Thomas">Maya Mary Thomas</name><affiliation><nlm:aff id="A103">Department of Neurological Sciences, Christian Medical College, Tamil Nadu, India</nlm:aff></affiliation></author><author><name sortKey="Till, Marianne" sort="Till, Marianne" uniqKey="Till M" first="Marianne" last="Till">Marianne Till</name><affiliation><nlm:aff id="A104">Service de Génétique, GHE, Hospices Civils de Lyon, Lyon-Bron, France</nlm:aff></affiliation></author><author><name sortKey="Tonduti, Davide" sort="Tonduti, Davide" uniqKey="Tonduti D" first="Davide" last="Tonduti">Davide Tonduti</name><affiliation><nlm:aff id="A13">Department of Brain and Behavioural Sciences, Child Neurology and Psychiatry Unit, University of Pavia, Pavia, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A43">Child Neurology Department, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation><nlm:aff id="A105">Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Institute, San Giovanni Rotondo, Italy</nlm:aff></affiliation></author><author><name sortKey="Van Coster, Rudy Noel" sort="Van Coster, Rudy Noel" uniqKey="Van Coster R" first="Rudy Noel" last="Van Coster">Rudy Noel Van Coster</name><affiliation><nlm:aff id="A106">Department of Pediatrics, Division of Pediatric Neurology, University Hospital Ghent, Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Der Knaap, Marjo S" sort="Van Der Knaap, Marjo S" uniqKey="Van Der Knaap M" first="Marjo S." last="Van Der Knaap">Marjo S. Van Der Knaap</name><affiliation><nlm:aff id="A107">Department of Paediatric Neurology, VU University Medical Center, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><affiliation><nlm:aff id="A108">Department of Paediatric Neurology, Royal Manchester Children’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Vijzelaar, Raymon" sort="Vijzelaar, Raymon" uniqKey="Vijzelaar R" first="Raymon" last="Vijzelaar">Raymon Vijzelaar</name><affiliation><nlm:aff id="A109">MRC-Holland, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation><nlm:aff id="A76">West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Wallace, Geoffrey B" sort="Wallace, Geoffrey B" uniqKey="Wallace G" first="Geoffrey B." last="Wallace">Geoffrey B. Wallace</name><affiliation><nlm:aff id="A110">Department of Neuroscience, Mater Children’s Hospital, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation><nlm:aff id="A111">Department of Paediatric Neurology, Birmingham Children’s Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Webb, Hannah J" sort="Webb, Hannah J" uniqKey="Webb H" first="Hannah J." last="Webb">Hannah J. Webb</name><affiliation><nlm:aff id="A112">Child Development Centre, St Luke’s Hospital, Bradford Teaching Hospitals NHS Trust, Bradford, UK</nlm:aff></affiliation></author><author><name sortKey="Whitehouse, William P" sort="Whitehouse, William P" uniqKey="Whitehouse W" first="William P." last="Whitehouse">William P. Whitehouse</name><affiliation><nlm:aff id="A113">Department of Paediatric Neurology, Nottingham University Hospitals NHS Trust, Nottingham, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A114">School of Medicine, University of Nottingham, Nottingham, UK</nlm:aff></affiliation></author><author><name sortKey="Whitney, Robyn N" sort="Whitney, Robyn N" uniqKey="Whitney R" first="Robyn N." last="Whitney">Robyn N. Whitney</name><affiliation><nlm:aff id="A115">Department of Pediatrics, Division of Pediatric Neurology, McMaster Children’s Hospital, McMaster University, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Zaki, Maha S" sort="Zaki, Maha S" uniqKey="Zaki M" first="Maha S." last="Zaki">Maha S. Zaki</name><affiliation><nlm:aff id="A5">Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt</nlm:aff></affiliation></author><author><name sortKey="Zuberi, Sameer M" sort="Zuberi, Sameer M" uniqKey="Zuberi S" first="Sameer M." last="Zuberi">Sameer M. Zuberi</name><affiliation><nlm:aff id="A116">Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Glasgow, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A117">School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H." last="Livingston">John H. Livingston</name><affiliation><nlm:aff id="A52">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><affiliation><nlm:aff id="A118">Service de Virologie, Université Paris Descartes, Inserm U1016, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A119">AP-HP Hôpital Cochin, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation><nlm:aff id="A118">Service de Virologie, Université Paris Descartes, Inserm U1016, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation><nlm:aff id="A3">Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</nlm:aff></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation><nlm:aff id="A81">Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I." last="Rice">Gillian I. Rice</name><affiliation><nlm:aff id="A2">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of <italic>TREX1</italic>, <italic>RNASEH2A</italic>, <italic>RNASEH2B</italic>, <italic>RNASEH2C</italic>, <italic>SAMHD1</italic>, <italic>ADAR</italic> or <italic>IFIH1</italic>. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi–Goutières syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101235741</journal-id><journal-id journal-id-type="pubmed-jr-id">32200</journal-id><journal-id journal-id-type="nlm-ta">Am J Med Genet A</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Med. Genet. A</journal-id><journal-title-group><journal-title>American journal of medical genetics. Part A</journal-title></journal-title-group><issn pub-type="ppub">1552-4825</issn><issn pub-type="epub">1552-4833</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25604658</article-id><article-id pub-id-type="pmc">4382202</article-id><article-id pub-id-type="doi">10.1002/ajmg.a.36887</article-id><article-id pub-id-type="manuscript">NIHMS666158</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Characterization of Human Disease Phenotypes Associated with Mutations in <italic>TREX1</italic>, <italic>RNASEH2A</italic>, <italic>RNASEH2B</italic>, <italic>RNASEH2C</italic>, <italic>SAMHD1</italic>, <italic>ADAR,</italic> and <italic>IFIH1</italic></article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Crow</surname><given-names>Yanick J.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" 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contrib-type="author"><name><surname>Zuberi</surname><given-names>Sameer M.</given-names></name><xref ref-type="aff" rid="A116">116</xref><xref ref-type="aff" rid="A117">117</xref></contrib><contrib contrib-type="author"><name><surname>Livingston</surname><given-names>John H.</given-names></name><xref ref-type="aff" rid="A52">52</xref></contrib><contrib contrib-type="author"><name><surname>Rozenberg</surname><given-names>Flore</given-names></name><xref ref-type="aff" rid="A118">118</xref><xref ref-type="aff" rid="A119">119</xref></contrib><contrib contrib-type="author"><name><surname>Lebon</surname><given-names>Pierre</given-names></name><xref ref-type="aff" rid="A118">118</xref></contrib><contrib contrib-type="author"><name><surname>Vanderver</surname><given-names>Adeline</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Orcesi</surname><given-names>Simona</given-names></name><xref ref-type="aff" rid="A81">81</xref></contrib><contrib contrib-type="author"><name><surname>Rice</surname><given-names>Gillian I.</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France</aff><aff id="A2"><label>2</label>Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK</aff><aff id="A3"><label>3</label>Department of Neurology & Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</aff><aff id="A4"><label>4</label>Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt</aff><aff id="A5"><label>5</label>Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt</aff><aff id="A6"><label>6</label>Department of Haematology, Bradford Royal Infirmary, Bradford, UK</aff><aff id="A7"><label>7</label>Départment de Neuropédiatrie, Hôpital Erasme-Université Libre de Bruxelles (ULB), Brussels, Belgium</aff><aff id="A8"><label>8</label>Child Neurology Division, Hospital Italiano de Buenos Aires, Beunos Aires, Argentina</aff><aff id="A9"><label>9</label>Department of Pediatric Neurology, Kaiser Permanente, Santa Clara, California</aff><aff id="A10"><label>10</label>The Genetic Institute, Emek Medical Center, Afula, Israel</aff><aff id="A11"><label>11</label>The Rappaport Faculty of Medicine, Technion, Haifa, Israel</aff><aff id="A12"><label>12</label>Department of Pediatric Neurology, Hospital Universitari Mutua Terrassa, Barcelona, Spain</aff><aff id="A13"><label>13</label>Department of Brain and Behavioural Sciences, Child Neurology and Psychiatry Unit, University of Pavia, Pavia, Italy</aff><aff id="A14"><label>14</label>Department of Internal Medicine and Pediatrics, Marshfield Clinic, Marshfield, Massachusetts</aff><aff id="A15"><label>15</label>Department of Molecular Genetics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada</aff><aff id="A16"><label>16</label>Department of Paediatric Rheumatology, Alder Hey Children’s National Health Service (NHS) Foundation Trust, Liverpool, UK</aff><aff id="A17"><label>17</label>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</aff><aff id="A18"><label>18</label>Department of Paediatrics, University Hospitals Coventry and Warwickshire, Coventry, UK</aff><aff id="A19"><label>19</label>Department of Genetics, CHU Angers, Angers, France</aff><aff id="A20"><label>20</label>Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</aff><aff id="A21"><label>21</label>Department of Women’s and Children’s Health, Institute of Translational Medicine, University of Liverpool, Liverpool, UK</aff><aff id="A22"><label>22</label>Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada</aff><aff id="A23"><label>23</label>Laboratory of Experimental Neurobiology, C. Mondino National Neurological Institute, Pavia, Italy</aff><aff id="A24"><label>24</label>Sorbonne Universités, UPMC Univ Paris 06, Paris, France</aff><aff id="A25"><label>25</label>APHP, Department of Paediatric Neurology, Hopital Trousseau, Paris, France</aff><aff id="A26"><label>26</label>Inserm U1141, Paris, France</aff><aff id="A27"><label>27</label>Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK</aff><aff id="A28"><label>28</label>Division of Hospitalist Medicine, George Washington University School of Medicine, Children’s National Health System, Washington, District of Columbia</aff><aff id="A29"><label>29</label>Department of Pediatrics, Division of Inherited Metabolic Diseases, University Hospital, Padova, Italy</aff><aff id="A30"><label>30</label>Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</aff><aff id="A31"><label>31</label>Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil</aff><aff id="A32"><label>32</label>Department of Pediatric Neurology, Hospital Clínico Universitario, University of Santiago de Compostela, Santiago de Compostela, Spain</aff><aff id="A33"><label>33</label>Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy</aff><aff id="A34"><label>34</label>Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK</aff><aff id="A35"><label>35</label>The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada</aff><aff id="A36"><label>36</label>Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada</aff><aff id="A37"><label>37</label>Department of Pediatrics and Neurology, Children’s Hospital Colorado, University of Colorado, Colorado</aff><aff id="A38"><label>38</label>Department of Paediatric Neurology, Complejo Hospitalario Jaén, Jaén, Spain</aff><aff id="A39"><label>39</label>Department of Paediatrics, NHS Ayrshire & Arran, Irvine, UK</aff><aff id="A40"><label>40</label>Paediatric Department, Azienda Ospedaliera Universitaria di Udine, Udine, Italy</aff><aff id="A41"><label>41</label>Paediatric Neurology, Children’s Department, University Hospitals of Leicester NHS Trust, Leicester, UK</aff><aff id="A42"><label>42</label>Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, University of Sydney, Sydney, Australia</aff><aff id="A43"><label>43</label>Child Neurology Department, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy</aff><aff id="A44"><label>44</label>Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK</aff><aff id="A45"><label>45</label>Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium</aff><aff id="A46"><label>46</label>Department of Paediatric Neurology, University Hospitals Leuven, ku Leuven kulak, Belgium</aff><aff id="A47"><label>47</label>Department of Development and Regeneration, Leuven, Belgium</aff><aff id="A48"><label>48</label>Center for Human Genetics, University of Leuven, Leuven, Belgium</aff><aff id="A49"><label>49</label>Department of Pediatrics, Unit of Rare Diseases, Institute Gaslini, Genoa, Italy</aff><aff id="A50"><label>50</label>Department of Paediatrics, Monash University, Melbourne, Australia</aff><aff id="A51"><label>51</label>Department of Clinical and Experimental Sciences, Child Neurology and Psychiatry Unit, University of Brescia, Brescia, Italy</aff><aff id="A52"><label>52</label>Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</aff><aff id="A53"><label>53</label>Department of Paediatrics, Hospital Professor Doutor Fernando Fonseca, EPE, Lisbon, Portugal</aff><aff id="A54"><label>54</label>Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, Baracaldo, Spain</aff><aff id="A55"><label>55</label>Department of Medical Genetics, CHU Bordeaux, Hopital Pellegrin, Bordeaux, France</aff><aff id="A56"><label>56</label>Department of Neurology, Kaiser Permanente, Los Angeles, California</aff><aff id="A57"><label>57</label>Department of Medical Genetics, Kanchi Kamakoti Child’s Trust Hospital, Chennai, India</aff><aff id="A58"><label>58</label>Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK</aff><aff id="A59"><label>59</label>Service de Génétique Médicale, CHU de Nantes, Nantes, France</aff><aff id="A60"><label>60</label>Department of Paediatric Neurology, Department of Pediatrics, Kocaeli University Medicine Faculty, Kocaeli, Turkey</aff><aff id="A61"><label>61</label>Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK</aff><aff id="A62"><label>62</label>Department of Paediatric Neurology, Temple St Children’s University Hospital, Dublin, Eire</aff><aff id="A63"><label>63</label>Department of Medical Genetics, Sydney Children’s Hospital, Sydney, Australia</aff><aff id="A64"><label>64</label>Department of Paediatric Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</aff><aff id="A65"><label>65</label>CHU Bicêtre, Le Kremlin-Bicêtre, France</aff><aff id="A66"><label>66</label>Department of Neuropediatrics, Children’s Hospital, University of Greifswald, Greifswald, Germany</aff><aff id="A67"><label>67</label>Department of Paediatric Neurology, Strasbourg—Hautepierre University Hospital, Strasbourg, France</aff><aff id="A68"><label>68</label>Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada</aff><aff id="A69"><label>69</label>Department of Children’s Neurosciences, Evelina London Children’s Hospital, Kings Health Partners AHSC, London, UK</aff><aff id="A70"><label>70</label>General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London, UK</aff><aff id="A71"><label>71</label>Department of Paediatric Neurology, Helsinki University Central Hospital, Children’s Hospital, Helsinki, Finland</aff><aff id="A72"><label>72</label>Department of Paediatric Neurology, The Royal Children’s Hospital, Melbourne, Australia</aff><aff id="A73"><label>73</label>Department of Paediatrics, Schneider Children’s Medical Center of Israel, Petach-Tikva, Israel</aff><aff id="A74"><label>74</label>Neurogenetics Unit, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</aff><aff id="A75"><label>75</label>Department of Genetic Medicine, Belfast City Hospital, Belfast, UK</aff><aff id="A76"><label>76</label>West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK</aff><aff id="A77"><label>77</label>Department of Rheumatology, Princess Margaret Hospital for Children, Perth, Australia</aff><aff id="A78"><label>78</label>Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India</aff><aff id="A79"><label>79</label>Department of Paediatric Neurology, 12 October University Hospital, Madrid, Spain</aff><aff id="A80"><label>80</label>Department of Child Health, Royal Devon & Exeter Foundation NHS Trust, Exeter, UK</aff><aff id="A81"><label>81</label>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</aff><aff id="A82"><label>82</label>Department of Pediatrics, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark</aff><aff id="A83"><label>83</label>Department of Paediatric Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain</aff><aff id="A84"><label>84</label>Department of Pediatric Dermatology, British Columbia’s Children’s Hospital, Vancouver, British Columbia, Canada</aff><aff id="A85"><label>85</label>Department of Paediatric Neurology, Great Northern Children’s Hospital, Newcastle upon Tyne, UK</aff><aff id="A86"><label>86</label>Women and Children’s Division, Section for Child Neurology, Oslo University Hospital, Oslo, Norway</aff><aff id="A87"><label>87</label>Department of Pediatric Metabolic Disorders, University Hospital Leuven, Leuven, Belgium</aff><aff id="A88"><label>88</label>Department of Public Health and Pediatric Sciences, Child Neurology and Psychiatry Unit, Regina Margherita Children Hospital, Torino, Italy</aff><aff id="A89"><label>89</label>Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France</aff><aff id="A90"><label>90</label>Neuropediatrie, Hopital Gui de Chauliac & INSERM U1051, Montpellier, France</aff><aff id="A91"><label>91</label>Department of Pediatrics, San Paolo Hospital, University of Milan, Milan, Italy</aff><aff id="A92"><label>92</label>Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium</aff><aff id="A93"><label>93</label>Department of Pediatrics, Manor Hospital, Walsall, UK</aff><aff id="A94"><label>94</label>Department of Paediatric Neurology, Mater Dei Hospital, Msida, Malta</aff><aff id="A95"><label>95</label>Department of Paediatric Neurology, Karolinska University Hospital, Stockholm, Sweden</aff><aff id="A96"><label>96</label>Schneider’s Children Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel</aff><aff id="A97"><label>97</label>Neurology/Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City</aff><aff id="A98"><label>98</label>Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK</aff><aff id="A99"><label>99</label>Department of Paediatric Neurology, University Children’s Hospital, Basel, Switzerland</aff><aff id="A100"><label>100</label>Department of Paediatrics, Murdoch Children’s Research Institute, Victorian Clinical Genetics Services, University of Melbourne, Melbourne, Australia</aff><aff id="A101"><label>101</label>Department of Child Health, University Hospital of Wales, Cardiff, UK</aff><aff id="A102"><label>102</label>Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia</aff><aff id="A103"><label>103</label>Department of Neurological Sciences, Christian Medical College, Tamil Nadu, India</aff><aff id="A104"><label>104</label>Service de Génétique, GHE, Hospices Civils de Lyon, Lyon-Bron, France</aff><aff id="A105"><label>105</label>Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Institute, San Giovanni Rotondo, Italy</aff><aff id="A106"><label>106</label>Department of Pediatrics, Division of Pediatric Neurology, University Hospital Ghent, Ghent, Belgium</aff><aff id="A107"><label>107</label>Department of Paediatric Neurology, VU University Medical Center, Amsterdam, The Netherlands</aff><aff id="A108"><label>108</label>Department of Paediatric Neurology, Royal Manchester Children’s Hospital, Manchester, UK</aff><aff id="A109"><label>109</label>MRC-Holland, Amsterdam, The Netherlands</aff><aff id="A110"><label>110</label>Department of Neuroscience, Mater Children’s Hospital, Brisbane, Australia</aff><aff id="A111"><label>111</label>Department of Paediatric Neurology, Birmingham Children’s Hospital, Birmingham, UK</aff><aff id="A112"><label>112</label>Child Development Centre, St Luke’s Hospital, Bradford Teaching Hospitals NHS Trust, Bradford, UK</aff><aff id="A113"><label>113</label>Department of Paediatric Neurology, Nottingham University Hospitals NHS Trust, Nottingham, UK</aff><aff id="A114"><label>114</label>School of Medicine, University of Nottingham, Nottingham, UK</aff><aff id="A115"><label>115</label>Department of Pediatrics, Division of Pediatric Neurology, McMaster Children’s Hospital, McMaster University, Ontario, Canada</aff><aff id="A116"><label>116</label>Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Glasgow, UK</aff><aff id="A117"><label>117</label>School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, UK</aff><aff id="A118"><label>118</label>Service de Virologie, Université Paris Descartes, Inserm U1016, Paris, France</aff><aff id="A119"><label>119</label>AP-HP Hôpital Cochin, Paris, France</aff><author-notes><corresp id="FN1"><label>*</label>Correspondence to: Professor Y J Crow, Institut Imagine, 24, Boulevard Du Montparnasse, 75015, Paris, France. <email>yanickcrow@mac.com</email></corresp><corresp id="FN2"><label>**</label>Correspondence to: Dr Gillian I Rice, A.V. Hill Building, University of Manchester, Oxford Road, Manchester M13 9PT. <email>Gillian.Rice@manchester.ac.uk</email></corresp><corresp id="FN3"><label>***</label>Correspondence to: Dr Adeline Vanderver, Center for Genetic Medicine Research, Department of Neurology, Children’s National Health System, 111 Michigan Ave, NW, Washington DC, 20010. <email>avanderv@childrensnational.org</email></corresp><corresp id="FN4"><label>****</label>Correspondence to: Dr Simona Orcesi, Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, 27100 Pavia Italy. <email>simona.orcesi@mondino.it</email></corresp><fn id="FN5"><p>Adeline Vanderver, Simona Orcesi and Gillian I. Rice wish it to be known that, in their opinion, these persons should be regarded as joint senior authors.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>21</day><month>3</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>16</day><month>1</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>2</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>2</month><year>2016</year></pub-date><volume>0</volume><issue>2</issue><fpage>296</fpage><lpage>312</lpage><pmc-comment>elocation-id from pubmed: 10.1002/ajmg.a.36887</pmc-comment>
<permissions><copyright-statement>© 2015 Wiley Periodicals, Inc.</copyright-statement><copyright-year>2015</copyright-year></permissions><abstract><p id="P1">Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of <italic>TREX1</italic>, <italic>RNASEH2A</italic>, <italic>RNASEH2B</italic>, <italic>RNASEH2C</italic>, <italic>SAMHD1</italic>, <italic>ADAR</italic> or <italic>IFIH1</italic>. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi–Goutières syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials.</p></abstract><kwd-group><kwd>Aicardi–Goutières syndrome</kwd><kwd>bilateral striatal necrosis</kwd><kwd>spastic paraparesis</kwd><kwd>type I interferon</kwd><kwd>interferon signature</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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