Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Identifieur interne : 001B73 ( Main/Exploration ); précédent : 001B72; suivant : 001B74Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Auteurs : Gabrielle Rudolf [France] ; Gaetan Lesca [France] ; Mana M. Mehrjouy [Danemark] ; Audrey Labalme [France] ; Manal Salmi [France] ; Iben Bache [Danemark] ; Nadine Bruneau [France] ; Manuela Pendziwiat [Allemagne] ; Joel Fluss [Suisse] ; Julitta De Bellescize [France] ; Julia Scholly [France] ; Rikke S. M Ller [Danemark] ; Dana Craiu [Roumanie] ; Niels Tommerup [Danemark] ; Maria Paola Valenti-Hirsch [France] ; Caroline Schluth-Bolard [France] ; Frédérique Sloan-Béna [Suisse] ; Katherine L. Helbig [États-Unis] ; Sarah Weckhuysen [Belgique] ; Patrick Edery [France] ; Safia Coulbaut [France] ; Mohamed Abbas [France] ; Ingrid E. Scheffer [Australie] ; Sha Tang [États-Unis] ; Candace T. Myers [États-Unis] ; Hannah Stamberger [Belgique] ; Gemma L. Carvill [États-Unis] ; Deepali N. Shinde [États-Unis] ; Heather C. Mefford [États-Unis] ; Elena Neagu [Roumanie] ; Robert Huether [États-Unis] ; Hsiao-Mei Lu [États-Unis] ; Alice Dica [Roumanie] ; Julie S. Cohen [États-Unis] ; Catrinel Iliescu [Roumanie] ; Cristina Pomeran [Roumanie] ; James Rubenstein [États-Unis] ; Ingo Helbig [Allemagne] ; Damien Sanlaville [France] ; Edouard Hirsch [France] ; Pierre Szepetowski [France]Source :
- European journal of human genetics : EJHG [ 1476-5438 ] ; 2016.
Descripteurs français
- KwdFr :
- Adulte, Codon non-sens, Délétion de segment de chromosome, Enfant, Exome, Exons, Femelle, Humains, Incapacités de développement (diagnostic), Incapacités de développement (génétique), Membre-2 du groupe F de la sous-famille-1 de récepteurs nucléaires (génétique), Mâle, Pedigree, Points de cassure de chromosome, Syndrome, Translocation génétique, Épilepsie généralisée (diagnostic), Épilepsie généralisée (génétique).
- MESH :
- diagnostic : Incapacités de développement, Épilepsie généralisée.
- génétique : Incapacités de développement, Membre-2 du groupe F de la sous-famille-1 de récepteurs nucléaires, Épilepsie généralisée.
- Adulte, Codon non-sens, Délétion de segment de chromosome, Enfant, Exome, Exons, Femelle, Humains, Mâle, Pedigree, Points de cassure de chromosome, Syndrome, Translocation génétique.
English descriptors
- KwdEn :
- Adult, Child, Chromosome Breakpoints, Chromosome Deletion, Codon, Nonsense, Developmental Disabilities (diagnosis), Developmental Disabilities (genetics), Epilepsy, Generalized (diagnosis), Epilepsy, Generalized (genetics), Exome, Exons, Female, Humans, Male, Nuclear Receptor Subfamily 1, Group F, Member 2 (genetics), Pedigree, Syndrome, Translocation, Genetic.
- MESH :
- chemical , genetics : Nuclear Receptor Subfamily 1, Group F, Member 2.
- chemical : Codon, Nonsense.
- diagnosis : Developmental Disabilities, Epilepsy, Generalized.
- genetics : Developmental Disabilities, Epilepsy, Generalized.
- Adult, Child, Chromosome Breakpoints, Chromosome Deletion, Exome, Exons, Female, Humans, Male, Pedigree, Syndrome, Translocation, Genetic.
Abstract
Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic pattern of bilateral, synchronous, and symmetrical spike-and-wave discharges. Despite their strong heritability, the genetic basis of generalized epilepsies remains largely elusive. Nevertheless, recent advances in genetic technology have led to the identification of numerous genes and genomic defects in various types of epilepsies in the past few years. In the present study, we performed whole-exome sequencing in a family with GGE consistent with the diagnosis of eyelid myoclonia with absences. We found a nonsense variant (c.196C>T/p.(Arg66*)) in RORB, which encodes the beta retinoid-related orphan nuclear receptor (RORβ), in four affected family members. In addition, two de novo variants (c.218T>C/p.(Leu73Pro); c.1249_1251delACG/p.(Thr417del)) were identified in sporadic patients by trio-based exome sequencing. We also found two de novo deletions in patients with behavioral and cognitive impairment and epilepsy: a 52-kb microdeletion involving exons 5-10 of RORB and a larger 9q21-microdeletion. Furthermore, we identified a patient with intellectual disability and a balanced translocation where one breakpoint truncates RORB and refined the phenotype of a recently reported patient with RORB deletion. Our data support the role of RORB gene variants/CNVs in neurodevelopmental disorders including epilepsy, and especially in generalized epilepsies with predominant absence seizures.
DOI: 10.1038/ejhg.2016.80
PubMed: 27352968
Affiliations:
- Allemagne, Australie, Belgique, Danemark, France, Roumanie, Suisse, États-Unis
- Alsace (région administrative), Auvergne-Rhône-Alpes, Californie, Grand Est, Hovedstaden, Maryland, Provence-Alpes-Côte d'Azur, Rhône-Alpes, Schleswig-Holstein, Victoria (État), Washington (État)
- Copenhague, Kiel, Lyon, Marseille, Melbourne, Seattle, Strasbourg
- Université de Melbourne, Université de Washington
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 001550
- to stream PubMed, to step Curation: 001528
- to stream PubMed, to step Checkpoint: 001528
- to stream Ncbi, to step Merge: 003774
- to stream Ncbi, to step Curation: 003774
- to stream Ncbi, to step Checkpoint: 003774
- to stream Main, to step Merge: 001B70
- to stream Main, to step Curation: 001B73
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.</title><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation wicri:level="3"><nlm:affiliation>IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaetan" last="Lesca">Gaetan Lesca</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Mehrjouy, Mana M" sort="Mehrjouy, Mana M" uniqKey="Mehrjouy M" first="Mana M" last="Mehrjouy">Mana M. Mehrjouy</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Labalme, Audrey" sort="Labalme, Audrey" uniqKey="Labalme A" first="Audrey" last="Labalme">Audrey Labalme</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Salmi, Manal" sort="Salmi, Manal" uniqKey="Salmi M" first="Manal" last="Salmi">Manal Salmi</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U901, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U901, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Bache, Iben" sort="Bache, Iben" uniqKey="Bache I" first="Iben" last="Bache">Iben Bache</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Bruneau, Nadine" sort="Bruneau, Nadine" uniqKey="Bruneau N" first="Nadine" last="Bruneau">Nadine Bruneau</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U901, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U901, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Pendziwiat, Manuela" sort="Pendziwiat, Manuela" uniqKey="Pendziwiat M" first="Manuela" last="Pendziwiat">Manuela Pendziwiat</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Fluss, Joel" sort="Fluss, Joel" uniqKey="Fluss J" first="Joel" last="Fluss">Joel Fluss</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Child and Adolescent Department, Geneva University Hospitals, Geneva, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Pediatric Neurology, Child and Adolescent Department, Geneva University Hospitals, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="De Bellescize, Julitta" sort="De Bellescize, Julitta" uniqKey="De Bellescize J" first="Julitta" last="De Bellescize">Julitta De Bellescize</name><affiliation wicri:level="3"><nlm:affiliation>Epilepsy, Sleep and Pediatric Neurophysiology Department, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Department, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Scholly, Julia" sort="Scholly, Julia" uniqKey="Scholly J" first="Julia" last="Scholly">Julia Scholly</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Strasbourg University Hospital, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Strasbourg University Hospital, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Centre, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Centre, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Craiu, Dana" sort="Craiu, Dana" uniqKey="Craiu D" first="Dana" last="Craiu">Dana Craiu</name><affiliation wicri:level="1"><nlm:affiliation>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Tommerup, Niels" sort="Tommerup, Niels" uniqKey="Tommerup N" first="Niels" last="Tommerup">Niels Tommerup</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Valenti Hirsch, Maria Paola" sort="Valenti Hirsch, Maria Paola" uniqKey="Valenti Hirsch M" first="Maria Paola" last="Valenti-Hirsch">Maria Paola Valenti-Hirsch</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Strasbourg University Hospital, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Strasbourg University Hospital, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Schluth Bolard, Caroline" sort="Schluth Bolard, Caroline" uniqKey="Schluth Bolard C" first="Caroline" last="Schluth-Bolard">Caroline Schluth-Bolard</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Sloan Bena, Frederique" sort="Sloan Bena, Frederique" uniqKey="Sloan Bena F" first="Frédérique" last="Sloan-Béna">Frédérique Sloan-Béna</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University Hospitals of Geneva, Geneva, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Medical Genetics, University Hospitals of Geneva, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Helbig, Katherine L" sort="Helbig, Katherine L" uniqKey="Helbig K" first="Katherine L" last="Helbig">Katherine L. Helbig</name><affiliation wicri:level="2"><nlm:affiliation>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Weckhuysen, Sarah" sort="Weckhuysen, Sarah" uniqKey="Weckhuysen S" first="Sarah" last="Weckhuysen">Sarah Weckhuysen</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Coulbaut, Safia" sort="Coulbaut, Safia" uniqKey="Coulbaut S" first="Safia" last="Coulbaut">Safia Coulbaut</name><affiliation wicri:level="1"><nlm:affiliation>UCB-Pharma, Colombes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UCB-Pharma, Colombes</wicri:regionArea><wicri:noRegion>Colombes</wicri:noRegion><wicri:noRegion>Colombes</wicri:noRegion></affiliation></author><author><name sortKey="Abbas, Mohamed" sort="Abbas, Mohamed" uniqKey="Abbas M" first="Mohamed" last="Abbas">Mohamed Abbas</name><affiliation wicri:level="1"><nlm:affiliation>UCB-Pharma, Colombes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UCB-Pharma, Colombes</wicri:regionArea><wicri:noRegion>Colombes</wicri:noRegion><wicri:noRegion>Colombes</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="4"><nlm:affiliation>Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation wicri:level="2"><nlm:affiliation>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T" last="Myers">Candace T. Myers</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle</wicri:regionArea><orgName type="university">Université de Washington</orgName><placeName><settlement type="city">Seattle</settlement><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Stamberger, Hannah" sort="Stamberger, Hannah" uniqKey="Stamberger H" first="Hannah" last="Stamberger">Hannah Stamberger</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Carvill, Gemma L" sort="Carvill, Gemma L" uniqKey="Carvill G" first="Gemma L" last="Carvill">Gemma L. Carvill</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle</wicri:regionArea><orgName type="university">Université de Washington</orgName><placeName><settlement type="city">Seattle</settlement><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Shinde, Deepali N" sort="Shinde, Deepali N" uniqKey="Shinde D" first="Deepali N" last="Shinde">Deepali N. Shinde</name><affiliation wicri:level="2"><nlm:affiliation>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C" last="Mefford">Heather C. Mefford</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle</wicri:regionArea><orgName type="university">Université de Washington</orgName><placeName><settlement type="city">Seattle</settlement><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Neagu, Elena" sort="Neagu, Elena" uniqKey="Neagu E" first="Elena" last="Neagu">Elena Neagu</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics Laboratory, "Mina Minovici" National Institute of Forensic Medicine, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>Human Genetics Laboratory, "Mina Minovici" National Institute of Forensic Medicine, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Huether, Robert" sort="Huether, Robert" uniqKey="Huether R" first="Robert" last="Huether">Robert Huether</name><affiliation wicri:level="2"><nlm:affiliation>Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Lu, Hsiao Mei" sort="Lu, Hsiao Mei" uniqKey="Lu H" first="Hsiao-Mei" last="Lu">Hsiao-Mei Lu</name><affiliation wicri:level="2"><nlm:affiliation>Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Dica, Alice" sort="Dica, Alice" uniqKey="Dica A" first="Alice" last="Dica">Alice Dica</name><affiliation wicri:level="1"><nlm:affiliation>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Cohen, Julie S" sort="Cohen, Julie S" uniqKey="Cohen J" first="Julie S" last="Cohen">Julie S. Cohen</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Iliescu, Catrinel" sort="Iliescu, Catrinel" uniqKey="Iliescu C" first="Catrinel" last="Iliescu">Catrinel Iliescu</name><affiliation wicri:level="1"><nlm:affiliation>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Pomeran, Cristina" sort="Pomeran, Cristina" uniqKey="Pomeran C" first="Cristina" last="Pomeran">Cristina Pomeran</name><affiliation wicri:level="1"><nlm:affiliation>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Rubenstein, James" sort="Rubenstein, James" uniqKey="Rubenstein J" first="James" last="Rubenstein">James Rubenstein</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation wicri:level="3"><nlm:affiliation>IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Szepetowski, Pierre" sort="Szepetowski, Pierre" uniqKey="Szepetowski P" first="Pierre" last="Szepetowski">Pierre Szepetowski</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U901, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U901, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27352968</idno><idno type="pmid">27352968</idno><idno type="doi">10.1038/ejhg.2016.80</idno><idno type="wicri:Area/PubMed/Corpus">001550</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001550</idno><idno type="wicri:Area/PubMed/Curation">001528</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001528</idno><idno type="wicri:Area/PubMed/Checkpoint">001528</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001528</idno><idno type="wicri:Area/Ncbi/Merge">003774</idno><idno type="wicri:Area/Ncbi/Curation">003774</idno><idno type="wicri:Area/Ncbi/Checkpoint">003774</idno><idno type="wicri:Area/Main/Merge">001B70</idno><idno type="wicri:Area/Main/Curation">001B73</idno><idno type="wicri:Area/Main/Exploration">001B73</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.</title><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation wicri:level="3"><nlm:affiliation>IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaetan" last="Lesca">Gaetan Lesca</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Mehrjouy, Mana M" sort="Mehrjouy, Mana M" uniqKey="Mehrjouy M" first="Mana M" last="Mehrjouy">Mana M. Mehrjouy</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Labalme, Audrey" sort="Labalme, Audrey" uniqKey="Labalme A" first="Audrey" last="Labalme">Audrey Labalme</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Salmi, Manal" sort="Salmi, Manal" uniqKey="Salmi M" first="Manal" last="Salmi">Manal Salmi</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U901, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U901, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Bache, Iben" sort="Bache, Iben" uniqKey="Bache I" first="Iben" last="Bache">Iben Bache</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Bruneau, Nadine" sort="Bruneau, Nadine" uniqKey="Bruneau N" first="Nadine" last="Bruneau">Nadine Bruneau</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U901, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U901, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Pendziwiat, Manuela" sort="Pendziwiat, Manuela" uniqKey="Pendziwiat M" first="Manuela" last="Pendziwiat">Manuela Pendziwiat</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Fluss, Joel" sort="Fluss, Joel" uniqKey="Fluss J" first="Joel" last="Fluss">Joel Fluss</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Child and Adolescent Department, Geneva University Hospitals, Geneva, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Pediatric Neurology, Child and Adolescent Department, Geneva University Hospitals, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="De Bellescize, Julitta" sort="De Bellescize, Julitta" uniqKey="De Bellescize J" first="Julitta" last="De Bellescize">Julitta De Bellescize</name><affiliation wicri:level="3"><nlm:affiliation>Epilepsy, Sleep and Pediatric Neurophysiology Department, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Department, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Scholly, Julia" sort="Scholly, Julia" uniqKey="Scholly J" first="Julia" last="Scholly">Julia Scholly</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Strasbourg University Hospital, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Strasbourg University Hospital, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Centre, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Centre, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Craiu, Dana" sort="Craiu, Dana" uniqKey="Craiu D" first="Dana" last="Craiu">Dana Craiu</name><affiliation wicri:level="1"><nlm:affiliation>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Tommerup, Niels" sort="Tommerup, Niels" uniqKey="Tommerup N" first="Niels" last="Tommerup">Niels Tommerup</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Valenti Hirsch, Maria Paola" sort="Valenti Hirsch, Maria Paola" uniqKey="Valenti Hirsch M" first="Maria Paola" last="Valenti-Hirsch">Maria Paola Valenti-Hirsch</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Strasbourg University Hospital, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Strasbourg University Hospital, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Schluth Bolard, Caroline" sort="Schluth Bolard, Caroline" uniqKey="Schluth Bolard C" first="Caroline" last="Schluth-Bolard">Caroline Schluth-Bolard</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Sloan Bena, Frederique" sort="Sloan Bena, Frederique" uniqKey="Sloan Bena F" first="Frédérique" last="Sloan-Béna">Frédérique Sloan-Béna</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University Hospitals of Geneva, Geneva, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Medical Genetics, University Hospitals of Geneva, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Helbig, Katherine L" sort="Helbig, Katherine L" uniqKey="Helbig K" first="Katherine L" last="Helbig">Katherine L. Helbig</name><affiliation wicri:level="2"><nlm:affiliation>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Weckhuysen, Sarah" sort="Weckhuysen, Sarah" uniqKey="Weckhuysen S" first="Sarah" last="Weckhuysen">Sarah Weckhuysen</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Coulbaut, Safia" sort="Coulbaut, Safia" uniqKey="Coulbaut S" first="Safia" last="Coulbaut">Safia Coulbaut</name><affiliation wicri:level="1"><nlm:affiliation>UCB-Pharma, Colombes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UCB-Pharma, Colombes</wicri:regionArea><wicri:noRegion>Colombes</wicri:noRegion><wicri:noRegion>Colombes</wicri:noRegion></affiliation></author><author><name sortKey="Abbas, Mohamed" sort="Abbas, Mohamed" uniqKey="Abbas M" first="Mohamed" last="Abbas">Mohamed Abbas</name><affiliation wicri:level="1"><nlm:affiliation>UCB-Pharma, Colombes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UCB-Pharma, Colombes</wicri:regionArea><wicri:noRegion>Colombes</wicri:noRegion><wicri:noRegion>Colombes</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="4"><nlm:affiliation>Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation wicri:level="2"><nlm:affiliation>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T" last="Myers">Candace T. Myers</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle</wicri:regionArea><orgName type="university">Université de Washington</orgName><placeName><settlement type="city">Seattle</settlement><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Stamberger, Hannah" sort="Stamberger, Hannah" uniqKey="Stamberger H" first="Hannah" last="Stamberger">Hannah Stamberger</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Carvill, Gemma L" sort="Carvill, Gemma L" uniqKey="Carvill G" first="Gemma L" last="Carvill">Gemma L. Carvill</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle</wicri:regionArea><orgName type="university">Université de Washington</orgName><placeName><settlement type="city">Seattle</settlement><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Shinde, Deepali N" sort="Shinde, Deepali N" uniqKey="Shinde D" first="Deepali N" last="Shinde">Deepali N. Shinde</name><affiliation wicri:level="2"><nlm:affiliation>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C" last="Mefford">Heather C. Mefford</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle</wicri:regionArea><orgName type="university">Université de Washington</orgName><placeName><settlement type="city">Seattle</settlement><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Neagu, Elena" sort="Neagu, Elena" uniqKey="Neagu E" first="Elena" last="Neagu">Elena Neagu</name><affiliation wicri:level="1"><nlm:affiliation>Human Genetics Laboratory, "Mina Minovici" National Institute of Forensic Medicine, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>Human Genetics Laboratory, "Mina Minovici" National Institute of Forensic Medicine, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Huether, Robert" sort="Huether, Robert" uniqKey="Huether R" first="Robert" last="Huether">Robert Huether</name><affiliation wicri:level="2"><nlm:affiliation>Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Lu, Hsiao Mei" sort="Lu, Hsiao Mei" uniqKey="Lu H" first="Hsiao-Mei" last="Lu">Hsiao-Mei Lu</name><affiliation wicri:level="2"><nlm:affiliation>Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Dica, Alice" sort="Dica, Alice" uniqKey="Dica A" first="Alice" last="Dica">Alice Dica</name><affiliation wicri:level="1"><nlm:affiliation>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Cohen, Julie S" sort="Cohen, Julie S" uniqKey="Cohen J" first="Julie S" last="Cohen">Julie S. Cohen</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Iliescu, Catrinel" sort="Iliescu, Catrinel" uniqKey="Iliescu C" first="Catrinel" last="Iliescu">Catrinel Iliescu</name><affiliation wicri:level="1"><nlm:affiliation>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Pomeran, Cristina" sort="Pomeran, Cristina" uniqKey="Pomeran C" first="Cristina" last="Pomeran">Cristina Pomeran</name><affiliation wicri:level="1"><nlm:affiliation>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>"Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Rubenstein, James" sort="Rubenstein, James" uniqKey="Rubenstein J" first="James" last="Rubenstein">James Rubenstein</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Lyon University Hospitals, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Lyon University Hospitals, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation wicri:level="3"><nlm:affiliation>IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Szepetowski, Pierre" sort="Szepetowski, Pierre" uniqKey="Szepetowski P" first="Pierre" last="Szepetowski">Pierre Szepetowski</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U901, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U901, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author></analytic><series><title level="j">European journal of human genetics : EJHG</title><idno type="eISSN">1476-5438</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Child</term><term>Chromosome Breakpoints</term><term>Chromosome Deletion</term><term>Codon, Nonsense</term><term>Developmental Disabilities (diagnosis)</term><term>Developmental Disabilities (genetics)</term><term>Epilepsy, Generalized (diagnosis)</term><term>Epilepsy, Generalized (genetics)</term><term>Exome</term><term>Exons</term><term>Female</term><term>Humans</term><term>Male</term><term>Nuclear Receptor Subfamily 1, Group F, Member 2 (genetics)</term><term>Pedigree</term><term>Syndrome</term><term>Translocation, Genetic</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Codon non-sens</term><term>Délétion de segment de chromosome</term><term>Enfant</term><term>Exome</term><term>Exons</term><term>Femelle</term><term>Humains</term><term>Incapacités de développement (diagnostic)</term><term>Incapacités de développement (génétique)</term><term>Membre-2 du groupe F de la sous-famille-1 de récepteurs nucléaires (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Points de cassure de chromosome</term><term>Syndrome</term><term>Translocation génétique</term><term>Épilepsie généralisée (diagnostic)</term><term>Épilepsie généralisée (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nuclear Receptor Subfamily 1, Group F, Member 2</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Developmental Disabilities</term><term>Epilepsy, Generalized</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Incapacités de développement</term><term>Épilepsie généralisée</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Developmental Disabilities</term><term>Epilepsy, Generalized</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Incapacités de développement</term><term>Membre-2 du groupe F de la sous-famille-1 de récepteurs nucléaires</term><term>Épilepsie généralisée</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>Chromosome Breakpoints</term><term>Chromosome Deletion</term><term>Exome</term><term>Exons</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term><term>Translocation, Genetic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Codon non-sens</term><term>Délétion de segment de chromosome</term><term>Enfant</term><term>Exome</term><term>Exons</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Pedigree</term><term>Points de cassure de chromosome</term><term>Syndrome</term><term>Translocation génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic pattern of bilateral, synchronous, and symmetrical spike-and-wave discharges. Despite their strong heritability, the genetic basis of generalized epilepsies remains largely elusive. Nevertheless, recent advances in genetic technology have led to the identification of numerous genes and genomic defects in various types of epilepsies in the past few years. In the present study, we performed whole-exome sequencing in a family with GGE consistent with the diagnosis of eyelid myoclonia with absences. We found a nonsense variant (c.196C>T/p.(Arg66*)) in RORB, which encodes the beta retinoid-related orphan nuclear receptor (RORβ), in four affected family members. In addition, two de novo variants (c.218T>C/p.(Leu73Pro); c.1249_1251delACG/p.(Thr417del)) were identified in sporadic patients by trio-based exome sequencing. We also found two de novo deletions in patients with behavioral and cognitive impairment and epilepsy: a 52-kb microdeletion involving exons 5-10 of RORB and a larger 9q21-microdeletion. Furthermore, we identified a patient with intellectual disability and a balanced translocation where one breakpoint truncates RORB and refined the phenotype of a recently reported patient with RORB deletion. Our data support the role of RORB gene variants/CNVs in neurodevelopmental disorders including epilepsy, and especially in generalized epilepsies with predominant absence seizures.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Danemark</li><li>France</li><li>Roumanie</li><li>Suisse</li><li>États-Unis</li></country><region><li>Alsace (région administrative)</li><li>Auvergne-Rhône-Alpes</li><li>Californie</li><li>Grand Est</li><li>Hovedstaden</li><li>Maryland</li><li>Provence-Alpes-Côte d'Azur</li><li>Rhône-Alpes</li><li>Schleswig-Holstein</li><li>Victoria (État)</li><li>Washington (État)</li></region><settlement><li>Copenhague</li><li>Kiel</li><li>Lyon</li><li>Marseille</li><li>Melbourne</li><li>Seattle</li><li>Strasbourg</li></settlement><orgName><li>Université de Melbourne</li><li>Université de Washington</li></orgName></list><tree><country name="France"><region name="Grand Est"><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name></region><name sortKey="Abbas, Mohamed" sort="Abbas, Mohamed" uniqKey="Abbas M" first="Mohamed" last="Abbas">Mohamed Abbas</name><name sortKey="Bruneau, Nadine" sort="Bruneau, Nadine" uniqKey="Bruneau N" first="Nadine" last="Bruneau">Nadine Bruneau</name><name sortKey="Coulbaut, Safia" sort="Coulbaut, Safia" uniqKey="Coulbaut S" first="Safia" last="Coulbaut">Safia Coulbaut</name><name sortKey="De Bellescize, Julitta" sort="De Bellescize, Julitta" uniqKey="De Bellescize J" first="Julitta" last="De Bellescize">Julitta De Bellescize</name><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><name sortKey="Labalme, Audrey" sort="Labalme, Audrey" uniqKey="Labalme A" first="Audrey" last="Labalme">Audrey Labalme</name><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaetan" last="Lesca">Gaetan Lesca</name><name sortKey="Salmi, Manal" sort="Salmi, Manal" uniqKey="Salmi M" first="Manal" last="Salmi">Manal Salmi</name><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name><name sortKey="Schluth Bolard, Caroline" sort="Schluth Bolard, Caroline" uniqKey="Schluth Bolard C" first="Caroline" last="Schluth-Bolard">Caroline Schluth-Bolard</name><name sortKey="Scholly, Julia" sort="Scholly, Julia" uniqKey="Scholly J" first="Julia" last="Scholly">Julia Scholly</name><name sortKey="Szepetowski, Pierre" sort="Szepetowski, Pierre" uniqKey="Szepetowski P" first="Pierre" last="Szepetowski">Pierre Szepetowski</name><name sortKey="Valenti Hirsch, Maria Paola" sort="Valenti Hirsch, Maria Paola" uniqKey="Valenti Hirsch M" first="Maria Paola" last="Valenti-Hirsch">Maria Paola Valenti-Hirsch</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Mehrjouy, Mana M" sort="Mehrjouy, Mana M" uniqKey="Mehrjouy M" first="Mana M" last="Mehrjouy">Mana M. Mehrjouy</name></region><name sortKey="Bache, Iben" sort="Bache, Iben" uniqKey="Bache I" first="Iben" last="Bache">Iben Bache</name><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><name sortKey="Tommerup, Niels" sort="Tommerup, Niels" uniqKey="Tommerup N" first="Niels" last="Tommerup">Niels Tommerup</name></country><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Pendziwiat, Manuela" sort="Pendziwiat, Manuela" uniqKey="Pendziwiat M" first="Manuela" last="Pendziwiat">Manuela Pendziwiat</name></region><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name></country><country name="Suisse"><noRegion><name sortKey="Fluss, Joel" sort="Fluss, Joel" uniqKey="Fluss J" first="Joel" last="Fluss">Joel Fluss</name></noRegion><name sortKey="Sloan Bena, Frederique" sort="Sloan Bena, Frederique" uniqKey="Sloan Bena F" first="Frédérique" last="Sloan-Béna">Frédérique Sloan-Béna</name></country><country name="Roumanie"><noRegion><name sortKey="Craiu, Dana" sort="Craiu, Dana" uniqKey="Craiu D" first="Dana" last="Craiu">Dana Craiu</name></noRegion><name sortKey="Dica, Alice" sort="Dica, Alice" uniqKey="Dica A" first="Alice" last="Dica">Alice Dica</name><name sortKey="Iliescu, Catrinel" sort="Iliescu, Catrinel" uniqKey="Iliescu C" first="Catrinel" last="Iliescu">Catrinel Iliescu</name><name sortKey="Neagu, Elena" sort="Neagu, Elena" uniqKey="Neagu E" first="Elena" last="Neagu">Elena Neagu</name><name sortKey="Pomeran, Cristina" sort="Pomeran, Cristina" uniqKey="Pomeran C" first="Cristina" last="Pomeran">Cristina Pomeran</name></country><country name="États-Unis"><region name="Californie"><name sortKey="Helbig, Katherine L" sort="Helbig, Katherine L" uniqKey="Helbig K" first="Katherine L" last="Helbig">Katherine L. Helbig</name></region><name sortKey="Carvill, Gemma L" sort="Carvill, Gemma L" uniqKey="Carvill G" first="Gemma L" last="Carvill">Gemma L. Carvill</name><name sortKey="Cohen, Julie S" sort="Cohen, Julie S" uniqKey="Cohen J" first="Julie S" last="Cohen">Julie S. Cohen</name><name sortKey="Huether, Robert" sort="Huether, Robert" uniqKey="Huether R" first="Robert" last="Huether">Robert Huether</name><name sortKey="Lu, Hsiao Mei" sort="Lu, Hsiao Mei" uniqKey="Lu H" first="Hsiao-Mei" last="Lu">Hsiao-Mei Lu</name><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C" last="Mefford">Heather C. Mefford</name><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T" last="Myers">Candace T. Myers</name><name sortKey="Rubenstein, James" sort="Rubenstein, James" uniqKey="Rubenstein J" first="James" last="Rubenstein">James Rubenstein</name><name sortKey="Shinde, Deepali N" sort="Shinde, Deepali N" uniqKey="Shinde D" first="Deepali N" last="Shinde">Deepali N. Shinde</name><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name></country><country name="Belgique"><noRegion><name sortKey="Weckhuysen, Sarah" sort="Weckhuysen, Sarah" uniqKey="Weckhuysen S" first="Sarah" last="Weckhuysen">Sarah Weckhuysen</name></noRegion><name sortKey="Stamberger, Hannah" sort="Stamberger, Hannah" uniqKey="Stamberger H" first="Hannah" last="Stamberger">Hannah Stamberger</name></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</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 001B73 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001B73 | 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:27352968
|texte= Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:27352968" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |