Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Identifieur interne : 001A76 ( Main/Exploration ); précédent : 001A75; suivant : 001A77Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Auteurs : Emma M. Jenkinson [Royaume-Uni] ; Mathieu P. Rodero [France] ; Paul R. Kasher [Royaume-Uni] ; Carolina Uggenti [France] ; Anthony Oojageer [Royaume-Uni] ; Laurence C. Goosey [Royaume-Uni] ; Yohann Rose [France] ; Christopher J. Kershaw [Royaume-Uni] ; Jill E. Urquhart [Royaume-Uni] ; Simon G. Williams [Royaume-Uni] ; Sanjeev S. Bhaskar [Royaume-Uni] ; James O Ullivan [Royaume-Uni] ; Gabriela M. Baerlocher [Suisse] ; Monika Haubitz [Suisse] ; Geraldine Aubert [Canada] ; Kristin W. Bara Ano [États-Unis] ; Angela J. Barnicoat [Royaume-Uni] ; Roberta Battini [Italie] ; Andrea Berger [Allemagne] ; Edward M. Blair [Royaume-Uni] ; Janice E. Brunstrom-Hernandez [États-Unis] ; Johannes A. Buckard [Allemagne] ; David M. Cassiman [Belgique] ; Rosaline Caumes [France] ; Duccio M. Cordelli [Italie] ; Liesbeth M. De Waele [Belgique] ; Alexander J. Fay [États-Unis] ; Patrick Ferreira [Canada] ; Nicholas A. Fletcher [Royaume-Uni] ; Alan E. Fryer [Royaume-Uni] ; Himanshu Goel [Australie] ; Cheryl A. Hemingway [Royaume-Uni] ; Marco Henneke [Allemagne] ; Imelda Hughes [Royaume-Uni] ; Rosalind J. Jefferson [Royaume-Uni] ; Ram Kumar [Royaume-Uni] ; Lieven Lagae [Belgique] ; Pierre G. Landrieu ; Charles M. Lourenço [Brésil] ; Timothy J. Malpas [Jersey] ; Sarju G. Mehta [Royaume-Uni] ; Imke Metz [Allemagne] ; Sakkubai Naidu [États-Unis] ; Katrin Unap [Estonie] ; Axel Panzer [Allemagne] ; Prab Prabhakar [Royaume-Uni] ; Geraldine Quaghebeur [Royaume-Uni] ; Raphael Schiffmann [États-Unis] ; Elliott H. Sherr [États-Unis] ; Kanaga R. Sinnathuray [Royaume-Uni] ; Calvin Soh [Royaume-Uni] ; Helen S. Stewart [Royaume-Uni] ; John Stone [Royaume-Uni] ; Hilde Van Esch [Belgique] ; Christine E. G. Van Mol [Belgique] ; Adeline Vanderver [États-Unis] ; Emma L. Wakeling [Royaume-Uni] ; Andrea Whitney [Royaume-Uni] ; Graham D. Pavitt [Royaume-Uni] ; Sam Griffiths-Jones [Royaume-Uni] ; Gillian I. Rice [Royaume-Uni] ; Patrick Revy [France] ; Marjo S. Van Der Knaap [Pays-Bas] ; John H. Livingston [Royaume-Uni] ; Raymond T. O Eefe [Royaume-Uni] ; Yanick J. Crow [Royaume-Uni, France]Source :
- Nature genetics [ 1061-4036 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Calcinose (anatomopathologie), Calcinose (génétique), Chromosomes humains de la paire 17, Enfant, Enfant d'âge préscolaire, Exome, Femelle, Génome humain, Humains, Jeune adulte, Kystes (anatomopathologie), Kystes (génétique), Leucoencéphalopathies (anatomopathologie), Leucoencéphalopathies (génétique), Liaison génétique, Lignée cellulaire, Maladies des petits vaisseaux cérébraux (anatomopathologie), Maladies des petits vaisseaux cérébraux (génétique), Mutation, Mâle, Nourrisson, Petit ARN nucléolaire (génétique), Études de cohortes.
- MESH :
- anatomopathologie : Calcinose, Kystes, Leucoencéphalopathies, Maladies des petits vaisseaux cérébraux.
- génétique : Calcinose, Kystes, Leucoencéphalopathies, Maladies des petits vaisseaux cérébraux, Petit ARN nucléolaire.
- Adolescent, Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Chromosomes humains de la paire 17, Enfant, Enfant d'âge préscolaire, Exome, Femelle, Génome humain, Humains, Jeune adulte, Liaison génétique, Lignée cellulaire, Mutation, Mâle, Nourrisson, Études de cohortes.
English descriptors
- KwdEn :
- Adolescent, Adult, Calcinosis (genetics), Calcinosis (pathology), Cell Line, Cerebral Small Vessel Diseases (genetics), Cerebral Small Vessel Diseases (pathology), Child, Child, Preschool, Chromosomes, Human, Pair 17, Cohort Studies, Cysts (genetics), Cysts (pathology), Exome, Female, Genetic Linkage, Genome, Human, Humans, Infant, Leukoencephalopathies (genetics), Leukoencephalopathies (pathology), Male, Middle Aged, Mutation, RNA, Small Nucleolar (genetics), Sequence Analysis, DNA, Young Adult.
- MESH :
- chemical , genetics : RNA, Small Nucleolar.
- genetics : Calcinosis, Cerebral Small Vessel Diseases, Cysts, Leukoencephalopathies.
- pathology : Calcinosis, Cerebral Small Vessel Diseases, Cysts, Leukoencephalopathies.
- Adolescent, Adult, Cell Line, Child, Child, Preschool, Chromosomes, Human, Pair 17, Cohort Studies, Exome, Female, Genetic Linkage, Genome, Human, Humans, Infant, Male, Middle Aged, Mutation, Sequence Analysis, DNA, Young Adult.
Abstract
Although ribosomes are ubiquitously expressed and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein encoding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene
Url:
DOI: 10.1038/ng.3661
PubMed: 27571260
PubMed Central: 5045717
Affiliations:
- Allemagne, Australie, Belgique, Brésil, Canada, Estonie, France, Italie, Jersey, Pays-Bas, Royaume-Uni, Suisse, États-Unis
- Angleterre, Basse-Saxe, Bavière, Berlin, Californie, Canton de Berne, District de Columbia, District de Düsseldorf, District de Haute-Bavière, Grand Londres, Grand Manchester, Hauts-de-France, Hollande-Septentrionale, Maryland, Missouri (État), Nord-Pas-de-Calais, Oxfordshire, Rhénanie-du-Nord-Westphalie, Texas, Toscane, Écosse, État de São Paulo, Île-de-France
- Amsterdam, Baltimore, Berlin, Berne, Düsseldorf, Göttingen, Lille, Londres, Manchester, Munich, Oxford, Paris, Pise, Saint-Louis (Missouri), São Paulo, Washington (district de Columbia), Édimbourg
- Université d'Édimbourg, Université de Manchester, Université de São Paulo, École de médecine (Université Washington de Saint-Louis)
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Le document en format XML
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Jenkinson</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Rodero, Mathieu P" sort="Rodero, Mathieu P" uniqKey="Rodero M" first="Mathieu P." last="Rodero">Mathieu P. 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Kershaw</name><affiliation wicri:level="4"><nlm:aff id="A3">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Urquhart, Jill E" sort="Urquhart, Jill E" uniqKey="Urquhart J" first="Jill E." last="Urquhart">Jill E. Urquhart</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Williams, Simon G" sort="Williams, Simon G" uniqKey="Williams S" first="Simon G." last="Williams">Simon G. 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Baerlocher</name><affiliation><nlm:aff id="A4">Department of Hematology, Inselspital, Bern University Hospital, University of Bern, Bern Switzerland</nlm:aff><wicri:noCountry code="subfield">Bern Switzerland</wicri:noCountry></affiliation><affiliation wicri:level="3"><nlm:aff id="A5">Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region></placeName></affiliation></author><author><name sortKey="Haubitz, Monika" sort="Haubitz, Monika" uniqKey="Haubitz M" first="Monika" last="Haubitz">Monika Haubitz</name><affiliation><nlm:aff id="A4">Department of Hematology, Inselspital, Bern University Hospital, University of Bern, Bern Switzerland</nlm:aff><wicri:noCountry code="subfield">Bern Switzerland</wicri:noCountry></affiliation><affiliation wicri:level="3"><nlm:aff id="A5">Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region></placeName></affiliation></author><author><name sortKey="Aubert, Geraldine" sort="Aubert, Geraldine" uniqKey="Aubert G" first="Geraldine" last="Aubert">Geraldine Aubert</name><affiliation wicri:level="1"><nlm:aff id="A6">Repeat Diagnostics Inc, North Vancouver, British Columbia, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Repeat Diagnostics Inc, North Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A7">Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Bara Ano, Kristin W" sort="Bara Ano, Kristin W" uniqKey="Bara Ano K" first="Kristin W." last="Bara Ano">Kristin W. Bara Ano</name><affiliation wicri:level="2"><nlm:aff id="A8">Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A9">Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Barnicoat, Angela J" sort="Barnicoat, Angela J" uniqKey="Barnicoat A" first="Angela J." last="Barnicoat">Angela J. Barnicoat</name><affiliation wicri:level="3"><nlm:aff id="A10">Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation wicri:level="3"><nlm:aff id="A11">Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Berger, Andrea" sort="Berger, Andrea" uniqKey="Berger A" first="Andrea" last="Berger">Andrea Berger</name><affiliation wicri:level="1"><nlm:aff id="A12">Department of Neuropediatrics, Klinikum Weiden, Weiden, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Klinikum Weiden, Weiden</wicri:regionArea><wicri:noRegion>Weiden</wicri:noRegion><wicri:noRegion>Weiden</wicri:noRegion><wicri:noRegion>Weiden</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="A13">Department of Neuropediatrics, Klinikum Harlaching, Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Klinikum Harlaching, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></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 wicri:level="3"><nlm:aff id="A14">Department Of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department Of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Brunstrom Hernandez, Janice E" sort="Brunstrom Hernandez, Janice E" uniqKey="Brunstrom Hernandez J" first="Janice E." last="Brunstrom-Hernandez">Janice E. Brunstrom-Hernandez</name><affiliation><nlm:aff id="A15">Director, 1 CP Place, PLLC, Plano Texas USA</nlm:aff><wicri:noCountry code="subfield">Plano Texas USA</wicri:noCountry></affiliation><affiliation wicri:level="4"><nlm:aff id="A16">Department of Neurology, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis</wicri:regionArea><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName><placeName><settlement type="city">Saint-Louis (Missouri)</settlement><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Buckard, Johannes A" sort="Buckard, Johannes A" uniqKey="Buckard J" first="Johannes A." last="Buckard">Johannes A. Buckard</name><affiliation wicri:level="3"><nlm:aff id="A17">Department of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Düsseldorf</region><settlement type="city">Düsseldorf</settlement></placeName></affiliation></author><author><name sortKey="Cassiman, David M" sort="Cassiman, David M" uniqKey="Cassiman D" first="David M." last="Cassiman">David M. Cassiman</name><affiliation wicri:level="1"><nlm:aff id="A18">Metabolic Center, Leuven University Hospitals and KU Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Metabolic Center, Leuven University Hospitals and KU Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Caumes, Rosaline" sort="Caumes, Rosaline" uniqKey="Caumes R" first="Rosaline" last="Caumes">Rosaline Caumes</name><affiliation wicri:level="3"><nlm:aff id="A19">Department of Neuropediatrics, Hopital Roger Salengro, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropediatrics, Hopital Roger Salengro, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Cordelli, Duccio M" sort="Cordelli, Duccio M" uniqKey="Cordelli D" first="Duccio M." last="Cordelli">Duccio M. Cordelli</name><affiliation wicri:level="1"><nlm:aff id="A20">Paediatric Neurology Unit, S. Orsola-Malpighi Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Paediatric Neurology Unit, S. Orsola-Malpighi Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="De Waele, Liesbeth M" sort="De Waele, Liesbeth M" uniqKey="De Waele L" first="Liesbeth M." last="De Waele">Liesbeth M. De Waele</name><affiliation wicri:level="1"><nlm:aff id="A21">Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Paediatric Neurology, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A22">Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Fay, Alexander J" sort="Fay, Alexander J" uniqKey="Fay A" first="Alexander J." last="Fay">Alexander J. Fay</name><affiliation wicri:level="4"><nlm:aff id="A16">Department of Neurology, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis</wicri:regionArea><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName><placeName><settlement type="city">Saint-Louis (Missouri)</settlement><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Ferreira, Patrick" sort="Ferreira, Patrick" uniqKey="Ferreira P" first="Patrick" last="Ferreira">Patrick Ferreira</name><affiliation wicri:level="1"><nlm:aff id="A23">Division of Medical Genetics, Alberta Children's Hospital, Calgary, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Medical Genetics, Alberta Children's Hospital, Calgary</wicri:regionArea><wicri:noRegion>Calgary</wicri:noRegion></affiliation></author><author><name sortKey="Fletcher, Nicholas A" sort="Fletcher, Nicholas A" uniqKey="Fletcher N" first="Nicholas A." last="Fletcher">Nicholas A. Fletcher</name><affiliation wicri:level="1"><nlm:aff id="A24">Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Fryer, Alan E" sort="Fryer, Alan E" uniqKey="Fryer A" first="Alan E." last="Fryer">Alan E. Fryer</name><affiliation wicri:level="1"><nlm:aff id="A25">Department of Clinical Genetics, Liverpool Women’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Liverpool Women’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Goel, Himanshu" sort="Goel, Himanshu" uniqKey="Goel H" first="Himanshu" last="Goel">Himanshu Goel</name><affiliation wicri:level="1"><nlm:aff id="A26">Hunter Genetics, Hunter New England Local Health District, Waratah, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Hunter Genetics, Hunter New England Local Health District, Waratah</wicri:regionArea><wicri:noRegion>Waratah</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A27">School of Medicine and Public Health, University of Newcastle, Callaghan, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine and Public Health, University of Newcastle, Callaghan</wicri:regionArea><wicri:noRegion>Callaghan</wicri:noRegion></affiliation></author><author><name sortKey="Hemingway, Cheryl A" sort="Hemingway, Cheryl A" uniqKey="Hemingway C" first="Cheryl A." last="Hemingway">Cheryl A. Hemingway</name><affiliation wicri:level="3"><nlm:aff id="A28">Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Henneke, Marco" sort="Henneke, Marco" uniqKey="Henneke M" first="Marco" last="Henneke">Marco Henneke</name><affiliation wicri:level="3"><nlm:aff id="A29">Department of Pediatrics and Adolescent Medicine, University Medical Center, Georg August University, Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Adolescent Medicine, University Medical Center, Georg August University, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Hughes, Imelda" sort="Hughes, Imelda" uniqKey="Hughes I" first="Imelda" last="Hughes">Imelda Hughes</name><affiliation wicri:level="3"><nlm:aff id="A30">Pediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Pediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Jefferson, Rosalind J" sort="Jefferson, Rosalind J" uniqKey="Jefferson R" first="Rosalind J." last="Jefferson">Rosalind J. Jefferson</name><affiliation wicri:level="1"><nlm:aff id="A31">Dingley Specialist Children's Centre, Royal Berkshire Hospital, Reading, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dingley Specialist Children's Centre, Royal Berkshire Hospital, Reading</wicri:regionArea><wicri:noRegion>Reading</wicri:noRegion></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation wicri:level="1"><nlm:aff id="A32">Department of Paediatric Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><affiliation wicri:level="1"><nlm:aff id="A22">Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Landrieu, Pierre G" sort="Landrieu, Pierre G" uniqKey="Landrieu P" first="Pierre G." last="Landrieu">Pierre G. Landrieu</name><affiliation><nlm:aff id="A33">Department of Paediatric Neurology, CHU Paris-Sud Bicetre, Le Kremlin Bicetre, France, 94270</nlm:aff><wicri:noCountry code="subfield">94270</wicri:noCountry></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M." last="Lourenço">Charles M. Lourenço</name><affiliation wicri:level="4"><nlm:aff id="A34">Neurogenetics Division, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Neurogenetics Division, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Malpas, Timothy J" sort="Malpas, Timothy J" uniqKey="Malpas T" first="Timothy J." last="Malpas">Timothy J. Malpas</name><affiliation wicri:level="1"><nlm:aff id="A35">Department of Paediatrics, Jersey General Hospital, St Helier, Jersey</nlm:aff><country xml:lang="fr">Jersey</country><wicri:regionArea>Department of Paediatrics, Jersey General Hospital, St Helier</wicri:regionArea><wicri:noRegion>St Helier</wicri:noRegion></affiliation></author><author><name sortKey="Mehta, Sarju G" sort="Mehta, Sarju G" uniqKey="Mehta S" first="Sarju G." last="Mehta">Sarju G. Mehta</name><affiliation wicri:level="1"><nlm:aff id="A36">East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Metz, Imke" sort="Metz, Imke" uniqKey="Metz I" first="Imke" last="Metz">Imke Metz</name><affiliation wicri:level="3"><nlm:aff id="A37">Department of Neuropathology, University Medical Center, Georg August University, Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropathology, University Medical Center, Georg August University, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Naidu, Sakkubai" sort="Naidu, Sakkubai" uniqKey="Naidu S" first="Sakkubai" last="Naidu">Sakkubai Naidu</name><affiliation wicri:level="3"><nlm:aff id="A38">Hugo Moser Research Institute, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Neurology & Pediatrics, Baltimore, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hugo Moser Research Institute, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Neurology & Pediatrics, Baltimore</wicri:regionArea><placeName><settlement type="city">Baltimore</settlement><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey=" Unap, Katrin" sort=" Unap, Katrin" uniqKey=" Unap K" first="Katrin" last=" Unap">Katrin Unap</name><affiliation wicri:level="1"><nlm:aff id="A39">Department of Genetics, Tartu University Hospital, Tartu, Estonia</nlm:aff><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Genetics, Tartu University Hospital, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A40">Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia</nlm:aff><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Panzer, Axel" sort="Panzer, Axel" uniqKey="Panzer A" first="Axel" last="Panzer">Axel Panzer</name><affiliation wicri:level="3"><nlm:aff id="A41">Epilepsy Center/ Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Epilepsy Center/ Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><affiliation wicri:level="3"><nlm:aff id="A28">Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Quaghebeur, Geraldine" sort="Quaghebeur, Geraldine" uniqKey="Quaghebeur G" first="Geraldine" last="Quaghebeur">Geraldine Quaghebeur</name><affiliation wicri:level="3"><nlm:aff id="A42">Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Schiffmann, Raphael" sort="Schiffmann, Raphael" uniqKey="Schiffmann R" first="Raphael" last="Schiffmann">Raphael Schiffmann</name><affiliation wicri:level="2"><nlm:aff id="A43">Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Sherr, Elliott H" sort="Sherr, Elliott H" uniqKey="Sherr E" first="Elliott H." last="Sherr">Elliott H. Sherr</name><affiliation wicri:level="2"><nlm:aff id="A44">Department of Neurology, UCSF, San Francisco, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, UCSF, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Sinnathuray, Kanaga R" sort="Sinnathuray, Kanaga R" uniqKey="Sinnathuray K" first="Kanaga R." last="Sinnathuray">Kanaga R. Sinnathuray</name><affiliation wicri:level="1"><nlm:aff id="A45">Department of Paediatrics, Wexham Park Hospital, Slough, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatrics, Wexham Park Hospital, Slough</wicri:regionArea><wicri:noRegion>Slough</wicri:noRegion></affiliation></author><author><name sortKey="Soh, Calvin" sort="Soh, Calvin" uniqKey="Soh C" first="Calvin" last="Soh">Calvin Soh</name><affiliation wicri:level="1"><nlm:aff id="A46">Neuroradiology Department, Salford Royal NHS Foundation Trust, Salford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neuroradiology Department, Salford Royal NHS Foundation Trust, Salford</wicri:regionArea><wicri:noRegion>Salford</wicri:noRegion></affiliation></author><author><name sortKey="Stewart, Helen S" sort="Stewart, Helen S" uniqKey="Stewart H" first="Helen S." last="Stewart">Helen S. Stewart</name><affiliation wicri:level="3"><nlm:aff id="A14">Department Of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department Of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Stone, John" sort="Stone, John" uniqKey="Stone J" first="John" last="Stone">John Stone</name><affiliation wicri:level="4"><nlm:aff id="A47">Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><nlm:aff id="A48">Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Van Mol, Christine E G" sort="Van Mol, Christine E G" uniqKey="Van Mol C" first="Christine E. G." last="Van Mol">Christine E. G. Van Mol</name><affiliation wicri:level="1"><nlm:aff id="A49">Department of pediatrics-neonatology, St. Augustinusziekenhuis, Oosterveldlaan 24, Wilrijk, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of pediatrics-neonatology, St. Augustinusziekenhuis, Oosterveldlaan 24, Wilrijk</wicri:regionArea><wicri:noRegion>Wilrijk</wicri:noRegion></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="3"><nlm:aff id="A50">Department of Neurology, George Washington University School of Medicine, Children’s National Health System, Washington DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, George Washington University School of Medicine, Children’s National Health System, Washington DC</wicri:regionArea><placeName><settlement type="city">Washington (district de Columbia)</settlement><region type="state">District de Columbia</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A51">Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington DC</wicri:regionArea><placeName><settlement type="city">Washington (district de Columbia)</settlement><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L." last="Wakeling">Emma L. Wakeling</name><affiliation wicri:level="1"><nlm:aff id="A52">North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow</wicri:regionArea><wicri:noRegion>Harrow</wicri:noRegion></affiliation></author><author><name sortKey="Whitney, Andrea" sort="Whitney, Andrea" uniqKey="Whitney A" first="Andrea" last="Whitney">Andrea Whitney</name><affiliation wicri:level="1"><nlm:aff id="A53">Department of Child Neurology, University Hospital Southampton NHS Trust, Southampton, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Child Neurology, University Hospital Southampton NHS Trust, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Pavitt, Graham D" sort="Pavitt, Graham D" uniqKey="Pavitt G" first="Graham D." last="Pavitt">Graham D. Pavitt</name><affiliation wicri:level="4"><nlm:aff id="A3">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Griffiths Jones, Sam" sort="Griffiths Jones, Sam" uniqKey="Griffiths Jones S" first="Sam" last="Griffiths-Jones">Sam Griffiths-Jones</name><affiliation wicri:level="4"><nlm:aff id="A3">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Revy, Patrick" sort="Revy, Patrick" uniqKey="Revy P" first="Patrick" last="Revy">Patrick Revy</name><affiliation wicri:level="3"><nlm:aff id="A54">INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris; Paris Descartes–Sorbonne Paris Cite University, Imagine Institute, Paris</nlm:aff><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris; Paris Descartes–Sorbonne Paris Cite University, Imagine Institute</wicri:orgArea></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 wicri:level="3"><nlm:aff id="A55">Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A56">Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></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 wicri:level="1"><nlm:aff id="A57">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Leeds General Infirmary, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="O Eefe, Raymond T" sort="O Eefe, Raymond T" uniqKey="O Eefe R" first="Raymond T." last="O Eefe">Raymond T. O Eefe</name><affiliation wicri:level="4"><nlm:aff id="A3">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27571260</idno><idno type="pmc">5045717</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717</idno><idno type="RBID">PMC:5045717</idno><idno type="doi">10.1038/ng.3661</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">002E46</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002E46</idno><idno type="wicri:Area/Pmc/Curation">002C96</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002C96</idno><idno type="wicri:Area/Pmc/Checkpoint">000753</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000753</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">001822</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001822</idno><idno type="wicri:Area/PubMed/Curation">001799</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001799</idno><idno type="wicri:Area/PubMed/Checkpoint">001799</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001799</idno><idno type="wicri:Area/Ncbi/Merge">003A58</idno><idno type="wicri:Area/Ncbi/Curation">003A58</idno><idno type="wicri:Area/Ncbi/Checkpoint">003A58</idno><idno type="wicri:Area/Main/Merge">001A72</idno><idno type="wicri:Area/Main/Curation">001A76</idno><idno type="wicri:Area/Main/Exploration">001A76</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>SNORD118</italic> cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts</title><author><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M." last="Jenkinson">Emma M. Jenkinson</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Rodero, Mathieu P" sort="Rodero, Mathieu P" uniqKey="Rodero M" first="Mathieu P." last="Rodero">Mathieu P. Rodero</name><affiliation wicri:level="3"><nlm:aff id="A2">INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Kasher, Paul R" sort="Kasher, Paul R" uniqKey="Kasher P" first="Paul R." last="Kasher">Paul R. Kasher</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Uggenti, Carolina" sort="Uggenti, Carolina" uniqKey="Uggenti C" first="Carolina" last="Uggenti">Carolina Uggenti</name><affiliation wicri:level="3"><nlm:aff id="A2">INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Oojageer, Anthony" sort="Oojageer, Anthony" uniqKey="Oojageer A" first="Anthony" last="Oojageer">Anthony Oojageer</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Goosey, Laurence C" sort="Goosey, Laurence C" uniqKey="Goosey L" first="Laurence C." last="Goosey">Laurence C. Goosey</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Rose, Yohann" sort="Rose, Yohann" uniqKey="Rose Y" first="Yohann" last="Rose">Yohann Rose</name><affiliation wicri:level="3"><nlm:aff id="A2">INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Kershaw, Christopher J" sort="Kershaw, Christopher J" uniqKey="Kershaw C" first="Christopher J." last="Kershaw">Christopher J. Kershaw</name><affiliation wicri:level="4"><nlm:aff id="A3">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Urquhart, Jill E" sort="Urquhart, Jill E" uniqKey="Urquhart J" first="Jill E." last="Urquhart">Jill E. Urquhart</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Williams, Simon G" sort="Williams, Simon G" uniqKey="Williams S" first="Simon G." last="Williams">Simon G. Williams</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Bhaskar, Sanjeev S" sort="Bhaskar, Sanjeev S" uniqKey="Bhaskar S" first="Sanjeev S." last="Bhaskar">Sanjeev S. Bhaskar</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="O Ullivan, James" sort="O Ullivan, James" uniqKey="O Ullivan J" first="James" last="O Ullivan">James O Ullivan</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Baerlocher, Gabriela M" sort="Baerlocher, Gabriela M" uniqKey="Baerlocher G" first="Gabriela M." last="Baerlocher">Gabriela M. Baerlocher</name><affiliation><nlm:aff id="A4">Department of Hematology, Inselspital, Bern University Hospital, University of Bern, Bern Switzerland</nlm:aff><wicri:noCountry code="subfield">Bern Switzerland</wicri:noCountry></affiliation><affiliation wicri:level="3"><nlm:aff id="A5">Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region></placeName></affiliation></author><author><name sortKey="Haubitz, Monika" sort="Haubitz, Monika" uniqKey="Haubitz M" first="Monika" last="Haubitz">Monika Haubitz</name><affiliation><nlm:aff id="A4">Department of Hematology, Inselspital, Bern University Hospital, University of Bern, Bern Switzerland</nlm:aff><wicri:noCountry code="subfield">Bern Switzerland</wicri:noCountry></affiliation><affiliation wicri:level="3"><nlm:aff id="A5">Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region></placeName></affiliation></author><author><name sortKey="Aubert, Geraldine" sort="Aubert, Geraldine" uniqKey="Aubert G" first="Geraldine" last="Aubert">Geraldine Aubert</name><affiliation wicri:level="1"><nlm:aff id="A6">Repeat Diagnostics Inc, North Vancouver, British Columbia, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Repeat Diagnostics Inc, North Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A7">Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Bara Ano, Kristin W" sort="Bara Ano, Kristin W" uniqKey="Bara Ano K" first="Kristin W." last="Bara Ano">Kristin W. Bara Ano</name><affiliation wicri:level="2"><nlm:aff id="A8">Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A9">Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Barnicoat, Angela J" sort="Barnicoat, Angela J" uniqKey="Barnicoat A" first="Angela J." last="Barnicoat">Angela J. Barnicoat</name><affiliation wicri:level="3"><nlm:aff id="A10">Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation wicri:level="3"><nlm:aff id="A11">Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Berger, Andrea" sort="Berger, Andrea" uniqKey="Berger A" first="Andrea" last="Berger">Andrea Berger</name><affiliation wicri:level="1"><nlm:aff id="A12">Department of Neuropediatrics, Klinikum Weiden, Weiden, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Klinikum Weiden, Weiden</wicri:regionArea><wicri:noRegion>Weiden</wicri:noRegion><wicri:noRegion>Weiden</wicri:noRegion><wicri:noRegion>Weiden</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="A13">Department of Neuropediatrics, Klinikum Harlaching, Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Klinikum Harlaching, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></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 wicri:level="3"><nlm:aff id="A14">Department Of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department Of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Brunstrom Hernandez, Janice E" sort="Brunstrom Hernandez, Janice E" uniqKey="Brunstrom Hernandez J" first="Janice E." last="Brunstrom-Hernandez">Janice E. Brunstrom-Hernandez</name><affiliation><nlm:aff id="A15">Director, 1 CP Place, PLLC, Plano Texas USA</nlm:aff><wicri:noCountry code="subfield">Plano Texas USA</wicri:noCountry></affiliation><affiliation wicri:level="4"><nlm:aff id="A16">Department of Neurology, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis</wicri:regionArea><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName><placeName><settlement type="city">Saint-Louis (Missouri)</settlement><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Buckard, Johannes A" sort="Buckard, Johannes A" uniqKey="Buckard J" first="Johannes A." last="Buckard">Johannes A. Buckard</name><affiliation wicri:level="3"><nlm:aff id="A17">Department of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Düsseldorf</region><settlement type="city">Düsseldorf</settlement></placeName></affiliation></author><author><name sortKey="Cassiman, David M" sort="Cassiman, David M" uniqKey="Cassiman D" first="David M." last="Cassiman">David M. Cassiman</name><affiliation wicri:level="1"><nlm:aff id="A18">Metabolic Center, Leuven University Hospitals and KU Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Metabolic Center, Leuven University Hospitals and KU Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Caumes, Rosaline" sort="Caumes, Rosaline" uniqKey="Caumes R" first="Rosaline" last="Caumes">Rosaline Caumes</name><affiliation wicri:level="3"><nlm:aff id="A19">Department of Neuropediatrics, Hopital Roger Salengro, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropediatrics, Hopital Roger Salengro, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Cordelli, Duccio M" sort="Cordelli, Duccio M" uniqKey="Cordelli D" first="Duccio M." last="Cordelli">Duccio M. Cordelli</name><affiliation wicri:level="1"><nlm:aff id="A20">Paediatric Neurology Unit, S. Orsola-Malpighi Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Paediatric Neurology Unit, S. Orsola-Malpighi Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="De Waele, Liesbeth M" sort="De Waele, Liesbeth M" uniqKey="De Waele L" first="Liesbeth M." last="De Waele">Liesbeth M. De Waele</name><affiliation wicri:level="1"><nlm:aff id="A21">Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Paediatric Neurology, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A22">Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Fay, Alexander J" sort="Fay, Alexander J" uniqKey="Fay A" first="Alexander J." last="Fay">Alexander J. Fay</name><affiliation wicri:level="4"><nlm:aff id="A16">Department of Neurology, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis</wicri:regionArea><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName><placeName><settlement type="city">Saint-Louis (Missouri)</settlement><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Ferreira, Patrick" sort="Ferreira, Patrick" uniqKey="Ferreira P" first="Patrick" last="Ferreira">Patrick Ferreira</name><affiliation wicri:level="1"><nlm:aff id="A23">Division of Medical Genetics, Alberta Children's Hospital, Calgary, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Medical Genetics, Alberta Children's Hospital, Calgary</wicri:regionArea><wicri:noRegion>Calgary</wicri:noRegion></affiliation></author><author><name sortKey="Fletcher, Nicholas A" sort="Fletcher, Nicholas A" uniqKey="Fletcher N" first="Nicholas A." last="Fletcher">Nicholas A. Fletcher</name><affiliation wicri:level="1"><nlm:aff id="A24">Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Fryer, Alan E" sort="Fryer, Alan E" uniqKey="Fryer A" first="Alan E." last="Fryer">Alan E. Fryer</name><affiliation wicri:level="1"><nlm:aff id="A25">Department of Clinical Genetics, Liverpool Women’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Liverpool Women’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Goel, Himanshu" sort="Goel, Himanshu" uniqKey="Goel H" first="Himanshu" last="Goel">Himanshu Goel</name><affiliation wicri:level="1"><nlm:aff id="A26">Hunter Genetics, Hunter New England Local Health District, Waratah, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Hunter Genetics, Hunter New England Local Health District, Waratah</wicri:regionArea><wicri:noRegion>Waratah</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A27">School of Medicine and Public Health, University of Newcastle, Callaghan, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine and Public Health, University of Newcastle, Callaghan</wicri:regionArea><wicri:noRegion>Callaghan</wicri:noRegion></affiliation></author><author><name sortKey="Hemingway, Cheryl A" sort="Hemingway, Cheryl A" uniqKey="Hemingway C" first="Cheryl A." last="Hemingway">Cheryl A. Hemingway</name><affiliation wicri:level="3"><nlm:aff id="A28">Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Henneke, Marco" sort="Henneke, Marco" uniqKey="Henneke M" first="Marco" last="Henneke">Marco Henneke</name><affiliation wicri:level="3"><nlm:aff id="A29">Department of Pediatrics and Adolescent Medicine, University Medical Center, Georg August University, Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Adolescent Medicine, University Medical Center, Georg August University, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Hughes, Imelda" sort="Hughes, Imelda" uniqKey="Hughes I" first="Imelda" last="Hughes">Imelda Hughes</name><affiliation wicri:level="3"><nlm:aff id="A30">Pediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Pediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Jefferson, Rosalind J" sort="Jefferson, Rosalind J" uniqKey="Jefferson R" first="Rosalind J." last="Jefferson">Rosalind J. Jefferson</name><affiliation wicri:level="1"><nlm:aff id="A31">Dingley Specialist Children's Centre, Royal Berkshire Hospital, Reading, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dingley Specialist Children's Centre, Royal Berkshire Hospital, Reading</wicri:regionArea><wicri:noRegion>Reading</wicri:noRegion></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation wicri:level="1"><nlm:aff id="A32">Department of Paediatric Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><affiliation wicri:level="1"><nlm:aff id="A22">Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Landrieu, Pierre G" sort="Landrieu, Pierre G" uniqKey="Landrieu P" first="Pierre G." last="Landrieu">Pierre G. Landrieu</name><affiliation><nlm:aff id="A33">Department of Paediatric Neurology, CHU Paris-Sud Bicetre, Le Kremlin Bicetre, France, 94270</nlm:aff><wicri:noCountry code="subfield">94270</wicri:noCountry></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M." last="Lourenço">Charles M. Lourenço</name><affiliation wicri:level="4"><nlm:aff id="A34">Neurogenetics Division, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Neurogenetics Division, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Malpas, Timothy J" sort="Malpas, Timothy J" uniqKey="Malpas T" first="Timothy J." last="Malpas">Timothy J. Malpas</name><affiliation wicri:level="1"><nlm:aff id="A35">Department of Paediatrics, Jersey General Hospital, St Helier, Jersey</nlm:aff><country xml:lang="fr">Jersey</country><wicri:regionArea>Department of Paediatrics, Jersey General Hospital, St Helier</wicri:regionArea><wicri:noRegion>St Helier</wicri:noRegion></affiliation></author><author><name sortKey="Mehta, Sarju G" sort="Mehta, Sarju G" uniqKey="Mehta S" first="Sarju G." last="Mehta">Sarju G. Mehta</name><affiliation wicri:level="1"><nlm:aff id="A36">East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Metz, Imke" sort="Metz, Imke" uniqKey="Metz I" first="Imke" last="Metz">Imke Metz</name><affiliation wicri:level="3"><nlm:aff id="A37">Department of Neuropathology, University Medical Center, Georg August University, Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropathology, University Medical Center, Georg August University, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Naidu, Sakkubai" sort="Naidu, Sakkubai" uniqKey="Naidu S" first="Sakkubai" last="Naidu">Sakkubai Naidu</name><affiliation wicri:level="3"><nlm:aff id="A38">Hugo Moser Research Institute, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Neurology & Pediatrics, Baltimore, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hugo Moser Research Institute, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Neurology & Pediatrics, Baltimore</wicri:regionArea><placeName><settlement type="city">Baltimore</settlement><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey=" Unap, Katrin" sort=" Unap, Katrin" uniqKey=" Unap K" first="Katrin" last=" Unap">Katrin Unap</name><affiliation wicri:level="1"><nlm:aff id="A39">Department of Genetics, Tartu University Hospital, Tartu, Estonia</nlm:aff><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Genetics, Tartu University Hospital, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A40">Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia</nlm:aff><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Panzer, Axel" sort="Panzer, Axel" uniqKey="Panzer A" first="Axel" last="Panzer">Axel Panzer</name><affiliation wicri:level="3"><nlm:aff id="A41">Epilepsy Center/ Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Epilepsy Center/ Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><affiliation wicri:level="3"><nlm:aff id="A28">Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Quaghebeur, Geraldine" sort="Quaghebeur, Geraldine" uniqKey="Quaghebeur G" first="Geraldine" last="Quaghebeur">Geraldine Quaghebeur</name><affiliation wicri:level="3"><nlm:aff id="A42">Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Schiffmann, Raphael" sort="Schiffmann, Raphael" uniqKey="Schiffmann R" first="Raphael" last="Schiffmann">Raphael Schiffmann</name><affiliation wicri:level="2"><nlm:aff id="A43">Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Sherr, Elliott H" sort="Sherr, Elliott H" uniqKey="Sherr E" first="Elliott H." last="Sherr">Elliott H. Sherr</name><affiliation wicri:level="2"><nlm:aff id="A44">Department of Neurology, UCSF, San Francisco, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, UCSF, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Sinnathuray, Kanaga R" sort="Sinnathuray, Kanaga R" uniqKey="Sinnathuray K" first="Kanaga R." last="Sinnathuray">Kanaga R. Sinnathuray</name><affiliation wicri:level="1"><nlm:aff id="A45">Department of Paediatrics, Wexham Park Hospital, Slough, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatrics, Wexham Park Hospital, Slough</wicri:regionArea><wicri:noRegion>Slough</wicri:noRegion></affiliation></author><author><name sortKey="Soh, Calvin" sort="Soh, Calvin" uniqKey="Soh C" first="Calvin" last="Soh">Calvin Soh</name><affiliation wicri:level="1"><nlm:aff id="A46">Neuroradiology Department, Salford Royal NHS Foundation Trust, Salford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neuroradiology Department, Salford Royal NHS Foundation Trust, Salford</wicri:regionArea><wicri:noRegion>Salford</wicri:noRegion></affiliation></author><author><name sortKey="Stewart, Helen S" sort="Stewart, Helen S" uniqKey="Stewart H" first="Helen S." last="Stewart">Helen S. Stewart</name><affiliation wicri:level="3"><nlm:aff id="A14">Department Of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department Of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Stone, John" sort="Stone, John" uniqKey="Stone J" first="John" last="Stone">John Stone</name><affiliation wicri:level="4"><nlm:aff id="A47">Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><nlm:aff id="A48">Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Van Mol, Christine E G" sort="Van Mol, Christine E G" uniqKey="Van Mol C" first="Christine E. G." last="Van Mol">Christine E. G. Van Mol</name><affiliation wicri:level="1"><nlm:aff id="A49">Department of pediatrics-neonatology, St. Augustinusziekenhuis, Oosterveldlaan 24, Wilrijk, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of pediatrics-neonatology, St. Augustinusziekenhuis, Oosterveldlaan 24, Wilrijk</wicri:regionArea><wicri:noRegion>Wilrijk</wicri:noRegion></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="3"><nlm:aff id="A50">Department of Neurology, George Washington University School of Medicine, Children’s National Health System, Washington DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, George Washington University School of Medicine, Children’s National Health System, Washington DC</wicri:regionArea><placeName><settlement type="city">Washington (district de Columbia)</settlement><region type="state">District de Columbia</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A51">Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Genetic Medicine Research, George Washington University School of Medicine, Children’s National Health System, Washington DC</wicri:regionArea><placeName><settlement type="city">Washington (district de Columbia)</settlement><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L." last="Wakeling">Emma L. Wakeling</name><affiliation wicri:level="1"><nlm:aff id="A52">North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow</wicri:regionArea><wicri:noRegion>Harrow</wicri:noRegion></affiliation></author><author><name sortKey="Whitney, Andrea" sort="Whitney, Andrea" uniqKey="Whitney A" first="Andrea" last="Whitney">Andrea Whitney</name><affiliation wicri:level="1"><nlm:aff id="A53">Department of Child Neurology, University Hospital Southampton NHS Trust, Southampton, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Child Neurology, University Hospital Southampton NHS Trust, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Pavitt, Graham D" sort="Pavitt, Graham D" uniqKey="Pavitt G" first="Graham D." last="Pavitt">Graham D. Pavitt</name><affiliation wicri:level="4"><nlm:aff id="A3">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Griffiths Jones, Sam" sort="Griffiths Jones, Sam" uniqKey="Griffiths Jones S" first="Sam" last="Griffiths-Jones">Sam Griffiths-Jones</name><affiliation wicri:level="4"><nlm:aff id="A3">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Revy, Patrick" sort="Revy, Patrick" uniqKey="Revy P" first="Patrick" last="Revy">Patrick Revy</name><affiliation wicri:level="3"><nlm:aff id="A54">INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris; Paris Descartes–Sorbonne Paris Cite University, Imagine Institute, Paris</nlm:aff><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris; Paris Descartes–Sorbonne Paris Cite University, Imagine Institute</wicri:orgArea></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 wicri:level="3"><nlm:aff id="A55">Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A56">Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></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 wicri:level="1"><nlm:aff id="A57">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Leeds General Infirmary, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="O Eefe, Raymond T" sort="O Eefe, Raymond T" uniqKey="O Eefe R" first="Raymond T." last="O Eefe">Raymond T. O Eefe</name><affiliation wicri:level="4"><nlm:aff id="A3">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation wicri:level="4"><nlm:aff id="A1">Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A2">INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes – Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Calcinosis (genetics)</term><term>Calcinosis (pathology)</term><term>Cell Line</term><term>Cerebral Small Vessel Diseases (genetics)</term><term>Cerebral Small Vessel Diseases (pathology)</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 17</term><term>Cohort Studies</term><term>Cysts (genetics)</term><term>Cysts (pathology)</term><term>Exome</term><term>Female</term><term>Genetic Linkage</term><term>Genome, Human</term><term>Humans</term><term>Infant</term><term>Leukoencephalopathies (genetics)</term><term>Leukoencephalopathies (pathology)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>RNA, Small Nucleolar (genetics)</term><term>Sequence Analysis, DNA</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de séquence d'ADN</term><term>Calcinose (anatomopathologie)</term><term>Calcinose (génétique)</term><term>Chromosomes humains de la paire 17</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Exome</term><term>Femelle</term><term>Génome humain</term><term>Humains</term><term>Jeune adulte</term><term>Kystes (anatomopathologie)</term><term>Kystes (génétique)</term><term>Leucoencéphalopathies (anatomopathologie)</term><term>Leucoencéphalopathies (génétique)</term><term>Liaison génétique</term><term>Lignée cellulaire</term><term>Maladies des petits vaisseaux cérébraux (anatomopathologie)</term><term>Maladies des petits vaisseaux cérébraux (génétique)</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Petit ARN nucléolaire (génétique)</term><term>Études de cohortes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>RNA, Small Nucleolar</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Calcinose</term><term>Kystes</term><term>Leucoencéphalopathies</term><term>Maladies des petits vaisseaux cérébraux</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Calcinosis</term><term>Cerebral Small Vessel Diseases</term><term>Cysts</term><term>Leukoencephalopathies</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Calcinose</term><term>Kystes</term><term>Leucoencéphalopathies</term><term>Maladies des petits vaisseaux cérébraux</term><term>Petit ARN nucléolaire</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Calcinosis</term><term>Cerebral Small Vessel Diseases</term><term>Cysts</term><term>Leukoencephalopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Cell Line</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 17</term><term>Cohort Studies</term><term>Exome</term><term>Female</term><term>Genetic Linkage</term><term>Genome, Human</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Sequence Analysis, DNA</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de séquence d'ADN</term><term>Chromosomes humains de la paire 17</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Exome</term><term>Femelle</term><term>Génome humain</term><term>Humains</term><term>Jeune adulte</term><term>Liaison génétique</term><term>Lignée cellulaire</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Études de cohortes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Although ribosomes are ubiquitously expressed and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein encoding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene <italic>SNORD118</italic>, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. These mutations affect U8 expression, processing and protein binding and thus implicate U8 as essential in cerebral vascular homeostasis.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Labrune, P" uniqKey="Labrune P">P Labrune</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nagae Poetscher, Lm" uniqKey="Nagae Poetscher L">LM Nagae-Poetscher</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Corboy, Jr" uniqKey="Corboy J">JR Corboy</name></author><author><name sortKey="Gault, J" uniqKey="Gault J">J Gault</name></author><author><name sortKey="Kleinschmidt Demasters, Bk" uniqKey="Kleinschmidt Demasters B">BK Kleinschmidt-DeMasters</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Livingston, Jh" uniqKey="Livingston J">JH Livingston</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Watkins, Nj" 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Ss" uniqKey="Cherny S">SS Cherny</name></author><author><name sortKey="Cookson, Wo" uniqKey="Cookson W">WO Cookson</name></author><author><name sortKey="Cardon, Lr" uniqKey="Cardon L">LR Cardon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kong, A" uniqKey="Kong A">A Kong</name></author><author><name sortKey="Cox, Nj" uniqKey="Cox N">NJ Cox</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dobbyn, Hc" uniqKey="Dobbyn H">HC Dobbyn</name></author><author><name sortKey="O Keefe, Rt" uniqKey="O Keefe R">RT O'Keefe</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Brésil</li><li>Canada</li><li>Estonie</li><li>France</li><li>Italie</li><li>Jersey</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Basse-Saxe</li><li>Bavière</li><li>Berlin</li><li>Californie</li><li>Canton de Berne</li><li>District de Columbia</li><li>District de Düsseldorf</li><li>District de Haute-Bavière</li><li>Grand Londres</li><li>Grand Manchester</li><li>Hauts-de-France</li><li>Hollande-Septentrionale</li><li>Maryland</li><li>Missouri (État)</li><li>Nord-Pas-de-Calais</li><li>Oxfordshire</li><li>Rhénanie-du-Nord-Westphalie</li><li>Texas</li><li>Toscane</li><li>Écosse</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Baltimore</li><li>Berlin</li><li>Berne</li><li>Düsseldorf</li><li>Göttingen</li><li>Lille</li><li>Londres</li><li>Manchester</li><li>Munich</li><li>Oxford</li><li>Paris</li><li>Pise</li><li>Saint-Louis (Missouri)</li><li>São Paulo</li><li>Washington (district de Columbia)</li><li>Édimbourg</li></settlement><orgName><li>Université d'Édimbourg</li><li>Université de Manchester</li><li>Université de São Paulo</li><li>École de médecine (Université Washington de Saint-Louis)</li></orgName></list><tree><noCountry><name sortKey="Landrieu, Pierre G" sort="Landrieu, Pierre G" uniqKey="Landrieu P" first="Pierre G." last="Landrieu">Pierre G. Landrieu</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M." last="Jenkinson">Emma M. Jenkinson</name></region><name sortKey="Barnicoat, Angela J" sort="Barnicoat, Angela J" uniqKey="Barnicoat A" first="Angela J." last="Barnicoat">Angela J. Barnicoat</name><name sortKey="Bhaskar, Sanjeev S" sort="Bhaskar, Sanjeev S" uniqKey="Bhaskar S" first="Sanjeev S." last="Bhaskar">Sanjeev S. Bhaskar</name><name sortKey="Blair, Edward M" sort="Blair, Edward M" uniqKey="Blair E" first="Edward M." last="Blair">Edward M. Blair</name><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><name sortKey="Fletcher, Nicholas A" sort="Fletcher, Nicholas A" uniqKey="Fletcher N" first="Nicholas A." last="Fletcher">Nicholas A. Fletcher</name><name sortKey="Fryer, Alan E" sort="Fryer, Alan E" uniqKey="Fryer A" first="Alan E." last="Fryer">Alan E. Fryer</name><name sortKey="Goosey, Laurence C" sort="Goosey, Laurence C" uniqKey="Goosey L" first="Laurence C." last="Goosey">Laurence C. Goosey</name><name sortKey="Griffiths Jones, Sam" sort="Griffiths Jones, Sam" uniqKey="Griffiths Jones S" first="Sam" last="Griffiths-Jones">Sam Griffiths-Jones</name><name sortKey="Hemingway, Cheryl A" sort="Hemingway, Cheryl A" uniqKey="Hemingway C" first="Cheryl A." last="Hemingway">Cheryl A. Hemingway</name><name sortKey="Hughes, Imelda" sort="Hughes, Imelda" uniqKey="Hughes I" first="Imelda" last="Hughes">Imelda Hughes</name><name sortKey="Jefferson, Rosalind J" sort="Jefferson, Rosalind J" uniqKey="Jefferson R" first="Rosalind J." last="Jefferson">Rosalind J. Jefferson</name><name sortKey="Kasher, Paul R" sort="Kasher, Paul R" uniqKey="Kasher P" first="Paul R." last="Kasher">Paul R. Kasher</name><name sortKey="Kershaw, Christopher J" sort="Kershaw, Christopher J" uniqKey="Kershaw C" first="Christopher J." last="Kershaw">Christopher J. Kershaw</name><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H." last="Livingston">John H. Livingston</name><name sortKey="Mehta, Sarju G" sort="Mehta, Sarju G" uniqKey="Mehta S" first="Sarju G." last="Mehta">Sarju G. Mehta</name><name sortKey="O Eefe, Raymond T" sort="O Eefe, Raymond T" uniqKey="O Eefe R" first="Raymond T." last="O Eefe">Raymond T. O Eefe</name><name sortKey="O Ullivan, James" sort="O Ullivan, James" uniqKey="O Ullivan J" first="James" last="O Ullivan">James O Ullivan</name><name sortKey="Oojageer, Anthony" sort="Oojageer, Anthony" uniqKey="Oojageer A" first="Anthony" last="Oojageer">Anthony Oojageer</name><name sortKey="Pavitt, Graham D" sort="Pavitt, Graham D" uniqKey="Pavitt G" first="Graham D." last="Pavitt">Graham D. Pavitt</name><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><name sortKey="Quaghebeur, Geraldine" sort="Quaghebeur, Geraldine" uniqKey="Quaghebeur G" first="Geraldine" last="Quaghebeur">Geraldine Quaghebeur</name><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I." last="Rice">Gillian I. Rice</name><name sortKey="Sinnathuray, Kanaga R" sort="Sinnathuray, Kanaga R" uniqKey="Sinnathuray K" first="Kanaga R." last="Sinnathuray">Kanaga R. Sinnathuray</name><name sortKey="Soh, Calvin" sort="Soh, Calvin" uniqKey="Soh C" first="Calvin" last="Soh">Calvin Soh</name><name sortKey="Stewart, Helen S" sort="Stewart, Helen S" uniqKey="Stewart H" first="Helen S." last="Stewart">Helen S. Stewart</name><name sortKey="Stone, John" sort="Stone, John" uniqKey="Stone J" first="John" last="Stone">John Stone</name><name sortKey="Urquhart, Jill E" sort="Urquhart, Jill E" uniqKey="Urquhart J" first="Jill E." last="Urquhart">Jill E. Urquhart</name><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L." last="Wakeling">Emma L. Wakeling</name><name sortKey="Whitney, Andrea" sort="Whitney, Andrea" uniqKey="Whitney A" first="Andrea" last="Whitney">Andrea Whitney</name><name sortKey="Williams, Simon G" sort="Williams, Simon G" uniqKey="Williams S" first="Simon G." last="Williams">Simon G. Williams</name></country><country name="France"><region name="Île-de-France"><name sortKey="Rodero, Mathieu P" sort="Rodero, Mathieu P" uniqKey="Rodero M" first="Mathieu P." last="Rodero">Mathieu P. Rodero</name></region><name sortKey="Caumes, Rosaline" sort="Caumes, Rosaline" uniqKey="Caumes R" first="Rosaline" last="Caumes">Rosaline Caumes</name><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><name sortKey="Revy, Patrick" sort="Revy, Patrick" uniqKey="Revy P" first="Patrick" last="Revy">Patrick Revy</name><name sortKey="Rose, Yohann" sort="Rose, Yohann" uniqKey="Rose Y" first="Yohann" last="Rose">Yohann Rose</name><name sortKey="Uggenti, Carolina" sort="Uggenti, Carolina" uniqKey="Uggenti C" first="Carolina" last="Uggenti">Carolina Uggenti</name></country><country name="Suisse"><region name="Canton de Berne"><name sortKey="Baerlocher, Gabriela M" sort="Baerlocher, Gabriela M" uniqKey="Baerlocher G" first="Gabriela M." last="Baerlocher">Gabriela M. Baerlocher</name></region><name sortKey="Haubitz, Monika" sort="Haubitz, Monika" uniqKey="Haubitz M" first="Monika" last="Haubitz">Monika Haubitz</name></country><country name="Canada"><noRegion><name sortKey="Aubert, Geraldine" sort="Aubert, Geraldine" uniqKey="Aubert G" first="Geraldine" last="Aubert">Geraldine Aubert</name></noRegion><name sortKey="Aubert, Geraldine" sort="Aubert, Geraldine" uniqKey="Aubert G" first="Geraldine" last="Aubert">Geraldine Aubert</name><name sortKey="Ferreira, Patrick" sort="Ferreira, Patrick" uniqKey="Ferreira P" first="Patrick" last="Ferreira">Patrick Ferreira</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Bara Ano, Kristin W" sort="Bara Ano, Kristin W" uniqKey="Bara Ano K" first="Kristin W." last="Bara Ano">Kristin W. Bara Ano</name></region><name sortKey="Bara Ano, Kristin W" sort="Bara Ano, Kristin W" uniqKey="Bara Ano K" first="Kristin W." last="Bara Ano">Kristin W. Bara Ano</name><name sortKey="Brunstrom Hernandez, Janice E" sort="Brunstrom Hernandez, Janice E" uniqKey="Brunstrom Hernandez J" first="Janice E." last="Brunstrom-Hernandez">Janice E. Brunstrom-Hernandez</name><name sortKey="Fay, Alexander J" sort="Fay, Alexander J" uniqKey="Fay A" first="Alexander J." last="Fay">Alexander J. Fay</name><name sortKey="Naidu, Sakkubai" sort="Naidu, Sakkubai" uniqKey="Naidu S" first="Sakkubai" last="Naidu">Sakkubai Naidu</name><name sortKey="Schiffmann, Raphael" sort="Schiffmann, Raphael" uniqKey="Schiffmann R" first="Raphael" last="Schiffmann">Raphael Schiffmann</name><name sortKey="Sherr, Elliott H" sort="Sherr, Elliott H" uniqKey="Sherr E" first="Elliott H." last="Sherr">Elliott H. Sherr</name><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name></country><country name="Italie"><region name="Toscane"><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name></region><name sortKey="Cordelli, Duccio M" sort="Cordelli, Duccio M" uniqKey="Cordelli D" first="Duccio M." last="Cordelli">Duccio M. Cordelli</name></country><country name="Allemagne"><noRegion><name sortKey="Berger, Andrea" sort="Berger, Andrea" uniqKey="Berger A" first="Andrea" last="Berger">Andrea Berger</name></noRegion><name sortKey="Berger, Andrea" sort="Berger, Andrea" uniqKey="Berger A" first="Andrea" last="Berger">Andrea Berger</name><name sortKey="Buckard, Johannes A" sort="Buckard, Johannes A" uniqKey="Buckard J" first="Johannes A." last="Buckard">Johannes A. Buckard</name><name sortKey="Henneke, Marco" sort="Henneke, Marco" uniqKey="Henneke M" first="Marco" last="Henneke">Marco Henneke</name><name sortKey="Metz, Imke" sort="Metz, Imke" uniqKey="Metz I" first="Imke" last="Metz">Imke Metz</name><name sortKey="Panzer, Axel" sort="Panzer, Axel" uniqKey="Panzer A" first="Axel" last="Panzer">Axel Panzer</name></country><country name="Belgique"><noRegion><name sortKey="Cassiman, David M" sort="Cassiman, David M" uniqKey="Cassiman D" first="David M." last="Cassiman">David M. Cassiman</name></noRegion><name sortKey="De Waele, Liesbeth M" sort="De Waele, Liesbeth M" uniqKey="De Waele L" first="Liesbeth M." last="De Waele">Liesbeth M. De Waele</name><name sortKey="De Waele, Liesbeth M" sort="De Waele, Liesbeth M" uniqKey="De Waele L" first="Liesbeth M." last="De Waele">Liesbeth M. De Waele</name><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><name sortKey="Van Mol, Christine E G" sort="Van Mol, Christine E G" uniqKey="Van Mol C" first="Christine E. G." last="Van Mol">Christine E. G. Van Mol</name></country><country name="Australie"><noRegion><name sortKey="Goel, Himanshu" sort="Goel, Himanshu" uniqKey="Goel H" first="Himanshu" last="Goel">Himanshu Goel</name></noRegion><name sortKey="Goel, Himanshu" sort="Goel, Himanshu" uniqKey="Goel H" first="Himanshu" last="Goel">Himanshu Goel</name></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M." last="Lourenço">Charles M. Lourenço</name></region></country><country name="Jersey"><noRegion><name sortKey="Malpas, Timothy J" sort="Malpas, Timothy J" uniqKey="Malpas T" first="Timothy J." last="Malpas">Timothy J. Malpas</name></noRegion></country><country name="Estonie"><noRegion><name sortKey=" Unap, Katrin" sort=" Unap, Katrin" uniqKey=" Unap K" first="Katrin" last=" Unap">Katrin Unap</name></noRegion><name sortKey=" Unap, Katrin" sort=" Unap, Katrin" uniqKey=" Unap K" first="Katrin" last=" Unap">Katrin Unap</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><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></region><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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