Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Identifieur interne : 000B70 ( Main/Exploration ); précédent : 000B69; suivant : 000B71Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Auteurs : Gillian I. Rice [Royaume-Uni] ; Naoki Kitabayashi [France] ; Magalie Barth [France] ; Tracy A. Briggs [Royaume-Uni] ; Annabel C E. Burton [Royaume-Uni] ; Maria Luisa Carpanelli [Italie] ; Alfredo M. Cerisola [Uruguay] ; Cindy Colson [France] ; Russell C. Dale [Australie] ; Federica Rachele Danti [Royaume-Uni] ; Niklas Darin [Suède] ; Bego A De Azua [Espagne] ; Valentina De Giorgis [Italie] ; Christian G L. De Goede [Royaume-Uni] ; Isabelle Desguerre [France] ; Corinne De Laet [Belgique] ; Atieh Eslahi [Iran] ; Michael C. Fahey [Australie] ; Penny Fallon [Royaume-Uni] ; Alex Fay [États-Unis] ; Elisa Fazzi [Italie] ; Mark P. Gorman [États-Unis] ; Nirmala Rani Gowrinathan [États-Unis] ; Marie Hully [France] ; Manju A. Kurian [Royaume-Uni] ; Nicolas Leboucq [France] ; Jean-Pierre S-M Lin [Royaume-Uni] ; Matthew A. Lines [Canada] ; Soe S. Mar [États-Unis] ; Reza Maroofian [Royaume-Uni] ; Laura Martí-Sanchez [Espagne] ; Gary Mccullagh [Royaume-Uni] ; Majid Mojarrad [Iran] ; Vinodh Narayanan [États-Unis] ; Simona Orcesi [Italie] ; Juan Dario Ortigoza-Escobar [Espagne] ; Belén Pérez-Due As [Espagne] ; Florence Petit [France] ; Keri M. Ramsey [États-Unis] ; Magnhild Rasmussen [Norvège] ; François Rivier [France] ; Pilar Rodríguez-Pombo [Espagne] ; Agathe Roubertie [France] ; Tommy I. Stödberg [Suède] ; Mehran Beiraghi Toosi [Iran] ; Annick Toutain [France] ; Florence Uettwiller [France] ; Nicole Ulrick [États-Unis] ; Adeline Vanderver [États-Unis] ; Amy Waldman [États-Unis] ; John H. Livingston [Royaume-Uni] ; Yanick J. Crow [Royaume-Uni]Source :
- Neuropediatrics [ 1439-1899 ] ; 2017.
Abstract
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.
DOI: 10.1055/s-0037-1601449
PubMed: 28561207
Affiliations:
- Australie, Belgique, Canada, Espagne, France, Iran, Italie, Norvège, Royaume-Uni, Suède, Uruguay, États-Unis
- Angleterre, Californie, Centre-Val de Loire, Communauté de Madrid, Grand Londres, Grand Manchester, Hauts-de-France, Languedoc-Roussillon, Massachusetts, Missouri (État), Nord-Pas-de-Calais, Nouvelle-Galles du Sud, Occitanie (région administrative), Pays de la Loire, Pennsylvanie, Région Centre, Région de Bruxelles-Capitale, Svealand, Victoria (État), Île-de-France, Østlandet
- Angers, Boston, Bruxelles, Lille, Londres, Los Angeles, Madrid, Manchester, Melbourne, Montpellier, Oslo, Paris, Philadelphie, Saint-Louis (Missouri), San Francisco, Stockholm, Sydney, Tours
- Université de Manchester, Université de Sydney, École de médecine (Université Washington de Saint-Louis)
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000B25
- to stream PubMed, to step Curation: 000B22
- to stream PubMed, to step Checkpoint: 000B22
- to stream Ncbi, to step Merge: 004897
- to stream Ncbi, to step Curation: 004897
- to stream Ncbi, to step Checkpoint: 004897
- to stream Main, to step Merge: 000B65
- to stream Main, to step Curation: 000B70
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.</title><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:affiliation>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Kitabayashi, Naoki" sort="Kitabayashi, Naoki" uniqKey="Kitabayashi N" first="Naoki" last="Kitabayashi">Naoki Kitabayashi</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, 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="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, CHU Angers, Angers, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, CHU Angers, Angers</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></affiliation></author><author><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><affiliation wicri:level="4"><nlm:affiliation>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Burton, Annabel C E" sort="Burton, Annabel C E" uniqKey="Burton A" first="Annabel C E" last="Burton">Annabel C E. Burton</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatrics and Child Health, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatrics and Child Health, St George's University Hospitals 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="Carpanelli, Maria Luisa" sort="Carpanelli, Maria Luisa" uniqKey="Carpanelli M" first="Maria Luisa" last="Carpanelli">Maria Luisa Carpanelli</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology and Psychiatry, A. Manzoni Hospital, Lecco, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology and Psychiatry, A. Manzoni Hospital, Lecco</wicri:regionArea><wicri:noRegion>Lecco</wicri:noRegion></affiliation></author><author><name sortKey="Cerisola, Alfredo M" sort="Cerisola, Alfredo M" uniqKey="Cerisola A" first="Alfredo M" last="Cerisola">Alfredo M. Cerisola</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Neurology, Facultad de Medicina, UDELAR, Montevideo, Uruguay.</nlm:affiliation><country xml:lang="fr">Uruguay</country><wicri:regionArea>Department of Pediatric Neurology, Facultad de Medicina, UDELAR, Montevideo</wicri:regionArea><wicri:noRegion>Montevideo</wicri:noRegion></affiliation></author><author><name sortKey="Colson, Cindy" sort="Colson, Cindy" uniqKey="Colson C" first="Cindy" last="Colson">Cindy Colson</name><affiliation wicri:level="3"><nlm:affiliation>Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, 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="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name><affiliation wicri:level="4"><nlm:affiliation>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Danti, Federica Rachele" sort="Danti, Federica Rachele" uniqKey="Danti F" first="Federica Rachele" last="Danti">Federica Rachele Danti</name><affiliation wicri:level="3"><nlm:affiliation>Department of Developmental Neurosciences, Institute of Child Health, UCL, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Developmental Neurosciences, Institute of Child Health, UCL, 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="Darin, Niklas" sort="Darin, Niklas" uniqKey="Darin N" first="Niklas" last="Darin">Niklas Darin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg</wicri:regionArea><wicri:noRegion>Gothenburg</wicri:noRegion></affiliation></author><author><name sortKey="De Azua, Bego A" sort="De Azua, Bego A" uniqKey="De Azua B" first="Bego A" last="De Azua">Bego A De Azua</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Hospital Son Llátzer, Palma de Mallorca, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Pediatrics, Hospital Son Llátzer, Palma de Mallorca</wicri:regionArea><wicri:noRegion>Palma de Mallorca</wicri:noRegion></affiliation></author><author><name sortKey="De Giorgis, Valentina" sort="De Giorgis, Valentina" uniqKey="De Giorgis V" first="Valentina" last="De Giorgis">Valentina De Giorgis</name><affiliation wicri:level="1"><nlm:affiliation>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="De Goede, Christian G L" sort="De Goede, Christian G L" uniqKey="De Goede C" first="Christian G L" last="De Goede">Christian G L. De Goede</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Neurology, Royal Preston Hospital, Preston, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Royal Preston Hospital, Preston</wicri:regionArea><wicri:noRegion>Preston</wicri:noRegion></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, 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="De Laet, Corinne" sort="De Laet, Corinne" uniqKey="De Laet C" first="Corinne" last="De Laet">Corinne De Laet</name><affiliation wicri:level="3"><nlm:affiliation>Nutrition and metabolic Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Nutrition and metabolic Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Eslahi, Atieh" sort="Eslahi, Atieh" uniqKey="Eslahi A" first="Atieh" last="Eslahi">Atieh Eslahi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author><author><name sortKey="Fahey, Michael C" sort="Fahey, Michael C" uniqKey="Fahey M" first="Michael C" last="Fahey">Michael C. Fahey</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatrics, Monash University, Melbourne, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, Monash University, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Fallon, Penny" sort="Fallon, Penny" uniqKey="Fallon P" first="Penny" last="Fallon">Penny Fallon</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Neurology, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, St George's University Hospitals 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="Fay, Alex" sort="Fay, Alex" uniqKey="Fay A" first="Alex" last="Fay">Alex Fay</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University of California, California, San Francisco, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of California, California, San Francisco</wicri:regionArea><placeName><settlement type="city">San Francisco</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation wicri:level="1"><nlm:affiliation>Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, Civil Hospital, University of Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, Civil Hospital, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Gorman, Mark P" sort="Gorman, Mark P" uniqKey="Gorman M" first="Mark P" last="Gorman">Mark P. Gorman</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Boston Children's Hospital, Boston, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston Children's Hospital, Boston</wicri:regionArea><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gowrinathan, Nirmala Rani" sort="Gowrinathan, Nirmala Rani" uniqKey="Gowrinathan N" first="Nirmala Rani" last="Gowrinathan">Nirmala Rani Gowrinathan</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Kaiser Permanente, Los Angeles, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Kaiser Permanente, Los Angeles</wicri:regionArea><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Hully, Marie" sort="Hully, Marie" uniqKey="Hully M" first="Marie" last="Hully">Marie Hully</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, 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="Kurian, Manju A" sort="Kurian, Manju A" uniqKey="Kurian M" first="Manju A" last="Kurian">Manju A. Kurian</name><affiliation wicri:level="3"><nlm:affiliation>Department of Developmental Neurosciences, Institute of Child Health, UCL, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Developmental Neurosciences, Institute of Child Health, UCL, 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="Leboucq, Nicolas" sort="Leboucq, Nicolas" uniqKey="Leboucq N" first="Nicolas" last="Leboucq">Nicolas Leboucq</name><affiliation wicri:level="3"><nlm:affiliation>Neuroradiologie, CHU de Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Neuroradiologie, CHU de Montpellier, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name><affiliation wicri:level="3"><nlm:affiliation>General Neurology and Complex Motor Disorders Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>General Neurology and Complex Motor Disorders Service, Evelina Children's Hospital, Guy's & St Thomas' 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="Lines, Matthew A" sort="Lines, Matthew A" uniqKey="Lines M" first="Matthew A" last="Lines">Matthew A. Lines</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of Ottawa, Ottawa, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, University of Ottawa, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation></author><author><name sortKey="Mar, Soe S" sort="Mar, Soe S" uniqKey="Mar S" first="Soe S" last="Mar">Soe S. Mar</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatric Neurology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatric Neurology, St. Louis Children's Hospital, Washington University School of Medicine, 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="Maroofian, Reza" sort="Maroofian, Reza" uniqKey="Maroofian R" first="Reza" last="Maroofian">Reza Maroofian</name><affiliation wicri:level="1"><nlm:affiliation>Medical Research, RILD Wellcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research, RILD Wellcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Marti Sanchez, Laura" sort="Marti Sanchez, Laura" uniqKey="Marti Sanchez L" first="Laura" last="Martí-Sanchez">Laura Martí-Sanchez</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Mccullagh, Gary" sort="Mccullagh, Gary" uniqKey="Mccullagh G" first="Gary" last="Mccullagh">Gary Mccullagh</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Royal Manchester Children's Hospital, 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="Mojarrad, Majid" sort="Mojarrad, Majid" uniqKey="Mojarrad M" first="Majid" last="Mojarrad">Majid Mojarrad</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author><author><name sortKey="Narayanan, Vinodh" sort="Narayanan, Vinodh" uniqKey="Narayanan V" first="Vinodh" last="Narayanan">Vinodh Narayanan</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix</wicri:regionArea><wicri:noRegion>Phoenix</wicri:noRegion></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation wicri:level="1"><nlm:affiliation>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Ortigoza Escobar, Juan Dario" sort="Ortigoza Escobar, Juan Dario" uniqKey="Ortigoza Escobar J" first="Juan Dario" last="Ortigoza-Escobar">Juan Dario Ortigoza-Escobar</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Perez Due As, Belen" sort="Perez Due As, Belen" uniqKey="Perez Due As B" first="Belén" last="Pérez-Due As">Belén Pérez-Due As</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="3"><nlm:affiliation>Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, 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="Ramsey, Keri M" sort="Ramsey, Keri M" uniqKey="Ramsey K" first="Keri M" last="Ramsey">Keri M. Ramsey</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix</wicri:regionArea><wicri:noRegion>Phoenix</wicri:noRegion></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Neurosciences for Children, and Unit for Congenital and Hereditary Neuromuscular Disorders, Oslo University Hospital, Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Clinical Neurosciences for Children, and Unit for Congenital and Hereditary Neuromuscular Disorders, Oslo University Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Rivier, Francois" sort="Rivier, Francois" uniqKey="Rivier F" first="François" last="Rivier">François Rivier</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier</wicri:regionArea><wicri:noRegion>CHU de Montpellier</wicri:noRegion><wicri:noRegion>CHU de Montpellier</wicri:noRegion></affiliation></author><author><name sortKey="Rodriguez Pombo, Pilar" sort="Rodriguez Pombo, Pilar" uniqKey="Rodriguez Pombo P" first="Pilar" last="Rodríguez-Pombo">Pilar Rodríguez-Pombo</name><affiliation wicri:level="3"><nlm:affiliation>Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma Madrid, CIBERER, IDIPAZ, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma Madrid, CIBERER, IDIPAZ, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier</wicri:regionArea><wicri:noRegion>CHU de Montpellier</wicri:noRegion><wicri:noRegion>CHU de Montpellier</wicri:noRegion></affiliation></author><author><name sortKey="Stodberg, Tommy I" sort="Stodberg, Tommy I" uniqKey="Stodberg T" first="Tommy I" last="Stödberg">Tommy I. Stödberg</name><affiliation wicri:level="3"><nlm:affiliation>Neuropediatric Unit, Karolinska University Hospital, Stockholm, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Neuropediatric Unit, Karolinska University Hospital, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Toosi, Mehran Beiraghi" sort="Toosi, Mehran Beiraghi" uniqKey="Toosi M" first="Mehran Beiraghi" last="Toosi">Mehran Beiraghi Toosi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Neurology, Ghaem Medical Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Pediatric Neurology, Ghaem Medical Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><affiliation wicri:level="3"><nlm:affiliation>Service de Génétique, CHU de Tours, Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU de Tours, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Uettwiller, Florence" sort="Uettwiller, Florence" uniqKey="Uettwiller F" first="Florence" last="Uettwiller">Florence Uettwiller</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Immunology-Hematology and Rheumatology Unit, Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Immunology-Hematology and Rheumatology Unit, Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, 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="Ulrick, Nicole" sort="Ulrick, Nicole" uniqKey="Ulrick N" first="Nicole" last="Ulrick">Nicole Ulrick</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:regionArea><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName></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:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:regionArea><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Waldman, Amy" sort="Waldman, Amy" uniqKey="Waldman A" first="Amy" last="Waldman">Amy Waldman</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:regionArea><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</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:affiliation>Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom.</nlm:affiliation><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="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation wicri:level="4"><nlm:affiliation>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28561207</idno><idno type="pmid">28561207</idno><idno type="doi">10.1055/s-0037-1601449</idno><idno type="wicri:Area/PubMed/Corpus">000B25</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B25</idno><idno type="wicri:Area/PubMed/Curation">000B22</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000B22</idno><idno type="wicri:Area/PubMed/Checkpoint">000B22</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000B22</idno><idno type="wicri:Area/Ncbi/Merge">004897</idno><idno type="wicri:Area/Ncbi/Curation">004897</idno><idno type="wicri:Area/Ncbi/Checkpoint">004897</idno><idno type="wicri:Area/Main/Merge">000B65</idno><idno type="wicri:Area/Main/Curation">000B70</idno><idno type="wicri:Area/Main/Exploration">000B70</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.</title><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:affiliation>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Kitabayashi, Naoki" sort="Kitabayashi, Naoki" uniqKey="Kitabayashi N" first="Naoki" last="Kitabayashi">Naoki Kitabayashi</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, 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="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, CHU Angers, Angers, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, CHU Angers, Angers</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></affiliation></author><author><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><affiliation wicri:level="4"><nlm:affiliation>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Burton, Annabel C E" sort="Burton, Annabel C E" uniqKey="Burton A" first="Annabel C E" last="Burton">Annabel C E. Burton</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatrics and Child Health, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatrics and Child Health, St George's University Hospitals 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="Carpanelli, Maria Luisa" sort="Carpanelli, Maria Luisa" uniqKey="Carpanelli M" first="Maria Luisa" last="Carpanelli">Maria Luisa Carpanelli</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology and Psychiatry, A. Manzoni Hospital, Lecco, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology and Psychiatry, A. Manzoni Hospital, Lecco</wicri:regionArea><wicri:noRegion>Lecco</wicri:noRegion></affiliation></author><author><name sortKey="Cerisola, Alfredo M" sort="Cerisola, Alfredo M" uniqKey="Cerisola A" first="Alfredo M" last="Cerisola">Alfredo M. Cerisola</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Neurology, Facultad de Medicina, UDELAR, Montevideo, Uruguay.</nlm:affiliation><country xml:lang="fr">Uruguay</country><wicri:regionArea>Department of Pediatric Neurology, Facultad de Medicina, UDELAR, Montevideo</wicri:regionArea><wicri:noRegion>Montevideo</wicri:noRegion></affiliation></author><author><name sortKey="Colson, Cindy" sort="Colson, Cindy" uniqKey="Colson C" first="Cindy" last="Colson">Cindy Colson</name><affiliation wicri:level="3"><nlm:affiliation>Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, 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="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name><affiliation wicri:level="4"><nlm:affiliation>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Danti, Federica Rachele" sort="Danti, Federica Rachele" uniqKey="Danti F" first="Federica Rachele" last="Danti">Federica Rachele Danti</name><affiliation wicri:level="3"><nlm:affiliation>Department of Developmental Neurosciences, Institute of Child Health, UCL, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Developmental Neurosciences, Institute of Child Health, UCL, 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="Darin, Niklas" sort="Darin, Niklas" uniqKey="Darin N" first="Niklas" last="Darin">Niklas Darin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg</wicri:regionArea><wicri:noRegion>Gothenburg</wicri:noRegion></affiliation></author><author><name sortKey="De Azua, Bego A" sort="De Azua, Bego A" uniqKey="De Azua B" first="Bego A" last="De Azua">Bego A De Azua</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Hospital Son Llátzer, Palma de Mallorca, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Pediatrics, Hospital Son Llátzer, Palma de Mallorca</wicri:regionArea><wicri:noRegion>Palma de Mallorca</wicri:noRegion></affiliation></author><author><name sortKey="De Giorgis, Valentina" sort="De Giorgis, Valentina" uniqKey="De Giorgis V" first="Valentina" last="De Giorgis">Valentina De Giorgis</name><affiliation wicri:level="1"><nlm:affiliation>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="De Goede, Christian G L" sort="De Goede, Christian G L" uniqKey="De Goede C" first="Christian G L" last="De Goede">Christian G L. De Goede</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Neurology, Royal Preston Hospital, Preston, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Royal Preston Hospital, Preston</wicri:regionArea><wicri:noRegion>Preston</wicri:noRegion></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, 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="De Laet, Corinne" sort="De Laet, Corinne" uniqKey="De Laet C" first="Corinne" last="De Laet">Corinne De Laet</name><affiliation wicri:level="3"><nlm:affiliation>Nutrition and metabolic Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Nutrition and metabolic Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Eslahi, Atieh" sort="Eslahi, Atieh" uniqKey="Eslahi A" first="Atieh" last="Eslahi">Atieh Eslahi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author><author><name sortKey="Fahey, Michael C" sort="Fahey, Michael C" uniqKey="Fahey M" first="Michael C" last="Fahey">Michael C. Fahey</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatrics, Monash University, Melbourne, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, Monash University, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Fallon, Penny" sort="Fallon, Penny" uniqKey="Fallon P" first="Penny" last="Fallon">Penny Fallon</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Neurology, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, St George's University Hospitals 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="Fay, Alex" sort="Fay, Alex" uniqKey="Fay A" first="Alex" last="Fay">Alex Fay</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University of California, California, San Francisco, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of California, California, San Francisco</wicri:regionArea><placeName><settlement type="city">San Francisco</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation wicri:level="1"><nlm:affiliation>Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, Civil Hospital, University of Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, Civil Hospital, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Gorman, Mark P" sort="Gorman, Mark P" uniqKey="Gorman M" first="Mark P" last="Gorman">Mark P. Gorman</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Boston Children's Hospital, Boston, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston Children's Hospital, Boston</wicri:regionArea><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gowrinathan, Nirmala Rani" sort="Gowrinathan, Nirmala Rani" uniqKey="Gowrinathan N" first="Nirmala Rani" last="Gowrinathan">Nirmala Rani Gowrinathan</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Kaiser Permanente, Los Angeles, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Kaiser Permanente, Los Angeles</wicri:regionArea><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Hully, Marie" sort="Hully, Marie" uniqKey="Hully M" first="Marie" last="Hully">Marie Hully</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, 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="Kurian, Manju A" sort="Kurian, Manju A" uniqKey="Kurian M" first="Manju A" last="Kurian">Manju A. Kurian</name><affiliation wicri:level="3"><nlm:affiliation>Department of Developmental Neurosciences, Institute of Child Health, UCL, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Developmental Neurosciences, Institute of Child Health, UCL, 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="Leboucq, Nicolas" sort="Leboucq, Nicolas" uniqKey="Leboucq N" first="Nicolas" last="Leboucq">Nicolas Leboucq</name><affiliation wicri:level="3"><nlm:affiliation>Neuroradiologie, CHU de Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Neuroradiologie, CHU de Montpellier, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name><affiliation wicri:level="3"><nlm:affiliation>General Neurology and Complex Motor Disorders Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>General Neurology and Complex Motor Disorders Service, Evelina Children's Hospital, Guy's & St Thomas' 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="Lines, Matthew A" sort="Lines, Matthew A" uniqKey="Lines M" first="Matthew A" last="Lines">Matthew A. Lines</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of Ottawa, Ottawa, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, University of Ottawa, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation></author><author><name sortKey="Mar, Soe S" sort="Mar, Soe S" uniqKey="Mar S" first="Soe S" last="Mar">Soe S. Mar</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatric Neurology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatric Neurology, St. Louis Children's Hospital, Washington University School of Medicine, 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="Maroofian, Reza" sort="Maroofian, Reza" uniqKey="Maroofian R" first="Reza" last="Maroofian">Reza Maroofian</name><affiliation wicri:level="1"><nlm:affiliation>Medical Research, RILD Wellcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research, RILD Wellcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Marti Sanchez, Laura" sort="Marti Sanchez, Laura" uniqKey="Marti Sanchez L" first="Laura" last="Martí-Sanchez">Laura Martí-Sanchez</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Mccullagh, Gary" sort="Mccullagh, Gary" uniqKey="Mccullagh G" first="Gary" last="Mccullagh">Gary Mccullagh</name><affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Royal Manchester Children's Hospital, 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="Mojarrad, Majid" sort="Mojarrad, Majid" uniqKey="Mojarrad M" first="Majid" last="Mojarrad">Majid Mojarrad</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author><author><name sortKey="Narayanan, Vinodh" sort="Narayanan, Vinodh" uniqKey="Narayanan V" first="Vinodh" last="Narayanan">Vinodh Narayanan</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix</wicri:regionArea><wicri:noRegion>Phoenix</wicri:noRegion></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation wicri:level="1"><nlm:affiliation>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Ortigoza Escobar, Juan Dario" sort="Ortigoza Escobar, Juan Dario" uniqKey="Ortigoza Escobar J" first="Juan Dario" last="Ortigoza-Escobar">Juan Dario Ortigoza-Escobar</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Perez Due As, Belen" sort="Perez Due As, Belen" uniqKey="Perez Due As B" first="Belén" last="Pérez-Due As">Belén Pérez-Due As</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="3"><nlm:affiliation>Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, 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="Ramsey, Keri M" sort="Ramsey, Keri M" uniqKey="Ramsey K" first="Keri M" last="Ramsey">Keri M. Ramsey</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix</wicri:regionArea><wicri:noRegion>Phoenix</wicri:noRegion></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Neurosciences for Children, and Unit for Congenital and Hereditary Neuromuscular Disorders, Oslo University Hospital, Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Clinical Neurosciences for Children, and Unit for Congenital and Hereditary Neuromuscular Disorders, Oslo University Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Rivier, Francois" sort="Rivier, Francois" uniqKey="Rivier F" first="François" last="Rivier">François Rivier</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier</wicri:regionArea><wicri:noRegion>CHU de Montpellier</wicri:noRegion><wicri:noRegion>CHU de Montpellier</wicri:noRegion></affiliation></author><author><name sortKey="Rodriguez Pombo, Pilar" sort="Rodriguez Pombo, Pilar" uniqKey="Rodriguez Pombo P" first="Pilar" last="Rodríguez-Pombo">Pilar Rodríguez-Pombo</name><affiliation wicri:level="3"><nlm:affiliation>Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma Madrid, CIBERER, IDIPAZ, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma Madrid, CIBERER, IDIPAZ, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier</wicri:regionArea><wicri:noRegion>CHU de Montpellier</wicri:noRegion><wicri:noRegion>CHU de Montpellier</wicri:noRegion></affiliation></author><author><name sortKey="Stodberg, Tommy I" sort="Stodberg, Tommy I" uniqKey="Stodberg T" first="Tommy I" last="Stödberg">Tommy I. Stödberg</name><affiliation wicri:level="3"><nlm:affiliation>Neuropediatric Unit, Karolinska University Hospital, Stockholm, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Neuropediatric Unit, Karolinska University Hospital, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Toosi, Mehran Beiraghi" sort="Toosi, Mehran Beiraghi" uniqKey="Toosi M" first="Mehran Beiraghi" last="Toosi">Mehran Beiraghi Toosi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Neurology, Ghaem Medical Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Pediatric Neurology, Ghaem Medical Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><affiliation wicri:level="3"><nlm:affiliation>Service de Génétique, CHU de Tours, Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU de Tours, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Uettwiller, Florence" sort="Uettwiller, Florence" uniqKey="Uettwiller F" first="Florence" last="Uettwiller">Florence Uettwiller</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Immunology-Hematology and Rheumatology Unit, Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Immunology-Hematology and Rheumatology Unit, Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, 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="Ulrick, Nicole" sort="Ulrick, Nicole" uniqKey="Ulrick N" first="Nicole" last="Ulrick">Nicole Ulrick</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:regionArea><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName></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:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:regionArea><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Waldman, Amy" sort="Waldman, Amy" uniqKey="Waldman A" first="Amy" last="Waldman">Amy Waldman</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, United States.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:regionArea><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</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:affiliation>Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom.</nlm:affiliation><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="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation wicri:level="4"><nlm:affiliation>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author></analytic><series><title level="j">Neuropediatrics</title><idno type="eISSN">1439-1899</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>Canada</li><li>Espagne</li><li>France</li><li>Iran</li><li>Italie</li><li>Norvège</li><li>Royaume-Uni</li><li>Suède</li><li>Uruguay</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Californie</li><li>Centre-Val de Loire</li><li>Communauté de Madrid</li><li>Grand Londres</li><li>Grand Manchester</li><li>Hauts-de-France</li><li>Languedoc-Roussillon</li><li>Massachusetts</li><li>Missouri (État)</li><li>Nord-Pas-de-Calais</li><li>Nouvelle-Galles du Sud</li><li>Occitanie (région administrative)</li><li>Pays de la Loire</li><li>Pennsylvanie</li><li>Région Centre</li><li>Région de Bruxelles-Capitale</li><li>Svealand</li><li>Victoria (État)</li><li>Île-de-France</li><li>Østlandet</li></region><settlement><li>Angers</li><li>Boston</li><li>Bruxelles</li><li>Lille</li><li>Londres</li><li>Los Angeles</li><li>Madrid</li><li>Manchester</li><li>Melbourne</li><li>Montpellier</li><li>Oslo</li><li>Paris</li><li>Philadelphie</li><li>Saint-Louis (Missouri)</li><li>San Francisco</li><li>Stockholm</li><li>Sydney</li><li>Tours</li></settlement><orgName><li>Université de Manchester</li><li>Université de Sydney</li><li>École de médecine (Université Washington de Saint-Louis)</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name></region><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><name sortKey="Burton, Annabel C E" sort="Burton, Annabel C E" uniqKey="Burton A" first="Annabel C E" last="Burton">Annabel C E. Burton</name><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><name sortKey="Danti, Federica Rachele" sort="Danti, Federica Rachele" uniqKey="Danti F" first="Federica Rachele" last="Danti">Federica Rachele Danti</name><name sortKey="De Goede, Christian G L" sort="De Goede, Christian G L" uniqKey="De Goede C" first="Christian G L" last="De Goede">Christian G L. De Goede</name><name sortKey="Fallon, Penny" sort="Fallon, Penny" uniqKey="Fallon P" first="Penny" last="Fallon">Penny Fallon</name><name sortKey="Kurian, Manju A" sort="Kurian, Manju A" uniqKey="Kurian M" first="Manju A" last="Kurian">Manju A. Kurian</name><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><name sortKey="Maroofian, Reza" sort="Maroofian, Reza" uniqKey="Maroofian R" first="Reza" last="Maroofian">Reza Maroofian</name><name sortKey="Mccullagh, Gary" sort="Mccullagh, Gary" uniqKey="Mccullagh G" first="Gary" last="Mccullagh">Gary Mccullagh</name></country><country name="France"><region name="Île-de-France"><name sortKey="Kitabayashi, Naoki" sort="Kitabayashi, Naoki" uniqKey="Kitabayashi N" first="Naoki" last="Kitabayashi">Naoki Kitabayashi</name></region><name sortKey="Barth, Magalie" sort="Barth, Magalie" uniqKey="Barth M" first="Magalie" last="Barth">Magalie Barth</name><name sortKey="Colson, Cindy" sort="Colson, Cindy" uniqKey="Colson C" first="Cindy" last="Colson">Cindy Colson</name><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><name sortKey="Hully, Marie" sort="Hully, Marie" uniqKey="Hully M" first="Marie" last="Hully">Marie Hully</name><name sortKey="Leboucq, Nicolas" sort="Leboucq, Nicolas" uniqKey="Leboucq N" first="Nicolas" last="Leboucq">Nicolas Leboucq</name><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><name sortKey="Rivier, Francois" sort="Rivier, Francois" uniqKey="Rivier F" first="François" last="Rivier">François Rivier</name><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><name sortKey="Uettwiller, Florence" sort="Uettwiller, Florence" uniqKey="Uettwiller F" first="Florence" last="Uettwiller">Florence Uettwiller</name></country><country name="Italie"><noRegion><name sortKey="Carpanelli, Maria Luisa" sort="Carpanelli, Maria Luisa" uniqKey="Carpanelli M" first="Maria Luisa" last="Carpanelli">Maria Luisa Carpanelli</name></noRegion><name sortKey="De Giorgis, Valentina" sort="De Giorgis, Valentina" uniqKey="De Giorgis V" first="Valentina" last="De Giorgis">Valentina De Giorgis</name><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name></country><country name="Uruguay"><noRegion><name sortKey="Cerisola, Alfredo M" sort="Cerisola, Alfredo M" uniqKey="Cerisola A" first="Alfredo M" last="Cerisola">Alfredo M. Cerisola</name></noRegion></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name></region><name sortKey="Fahey, Michael C" sort="Fahey, Michael C" uniqKey="Fahey M" first="Michael C" last="Fahey">Michael C. Fahey</name></country><country name="Suède"><noRegion><name sortKey="Darin, Niklas" sort="Darin, Niklas" uniqKey="Darin N" first="Niklas" last="Darin">Niklas Darin</name></noRegion><name sortKey="Stodberg, Tommy I" sort="Stodberg, Tommy I" uniqKey="Stodberg T" first="Tommy I" last="Stödberg">Tommy I. Stödberg</name></country><country name="Espagne"><noRegion><name sortKey="De Azua, Bego A" sort="De Azua, Bego A" uniqKey="De Azua B" first="Bego A" last="De Azua">Bego A De Azua</name></noRegion><name sortKey="Marti Sanchez, Laura" sort="Marti Sanchez, Laura" uniqKey="Marti Sanchez L" first="Laura" last="Martí-Sanchez">Laura Martí-Sanchez</name><name sortKey="Ortigoza Escobar, Juan Dario" sort="Ortigoza Escobar, Juan Dario" uniqKey="Ortigoza Escobar J" first="Juan Dario" last="Ortigoza-Escobar">Juan Dario Ortigoza-Escobar</name><name sortKey="Perez Due As, Belen" sort="Perez Due As, Belen" uniqKey="Perez Due As B" first="Belén" last="Pérez-Due As">Belén Pérez-Due As</name><name sortKey="Rodriguez Pombo, Pilar" sort="Rodriguez Pombo, Pilar" uniqKey="Rodriguez Pombo P" first="Pilar" last="Rodríguez-Pombo">Pilar Rodríguez-Pombo</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="De Laet, Corinne" sort="De Laet, Corinne" uniqKey="De Laet C" first="Corinne" last="De Laet">Corinne De Laet</name></region></country><country name="Iran"><noRegion><name sortKey="Eslahi, Atieh" sort="Eslahi, Atieh" uniqKey="Eslahi A" first="Atieh" last="Eslahi">Atieh Eslahi</name></noRegion><name sortKey="Mojarrad, Majid" sort="Mojarrad, Majid" uniqKey="Mojarrad M" first="Majid" last="Mojarrad">Majid Mojarrad</name><name sortKey="Toosi, Mehran Beiraghi" sort="Toosi, Mehran Beiraghi" uniqKey="Toosi M" first="Mehran Beiraghi" last="Toosi">Mehran Beiraghi Toosi</name></country><country name="États-Unis"><region name="Californie"><name sortKey="Fay, Alex" sort="Fay, Alex" uniqKey="Fay A" first="Alex" last="Fay">Alex Fay</name></region><name sortKey="Gorman, Mark P" sort="Gorman, Mark P" uniqKey="Gorman M" first="Mark P" last="Gorman">Mark P. Gorman</name><name sortKey="Gowrinathan, Nirmala Rani" sort="Gowrinathan, Nirmala Rani" uniqKey="Gowrinathan N" first="Nirmala Rani" last="Gowrinathan">Nirmala Rani Gowrinathan</name><name sortKey="Mar, Soe S" sort="Mar, Soe S" uniqKey="Mar S" first="Soe S" last="Mar">Soe S. Mar</name><name sortKey="Narayanan, Vinodh" sort="Narayanan, Vinodh" uniqKey="Narayanan V" first="Vinodh" last="Narayanan">Vinodh Narayanan</name><name sortKey="Ramsey, Keri M" sort="Ramsey, Keri M" uniqKey="Ramsey K" first="Keri M" last="Ramsey">Keri M. Ramsey</name><name sortKey="Ulrick, Nicole" sort="Ulrick, Nicole" uniqKey="Ulrick N" first="Nicole" last="Ulrick">Nicole Ulrick</name><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><name sortKey="Waldman, Amy" sort="Waldman, Amy" uniqKey="Waldman A" first="Amy" last="Waldman">Amy Waldman</name></country><country name="Canada"><noRegion><name sortKey="Lines, Matthew A" sort="Lines, Matthew A" uniqKey="Lines M" first="Matthew A" last="Lines">Matthew A. Lines</name></noRegion></country><country name="Norvège"><region name="Østlandet"><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000B70 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000B70 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:28561207
|texte= Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:28561207" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |