与RORB相关疾病的分子和表型表征

Zeynep Gokce-Samar¹, Annalisa Vetro¹, Julitta De Bellescize¹+61

• ¹From the Department of Pediatric Clinical Epileptology (Z.G.-S., J.D.B., A.A.A.), Sleep Disorders and Functional Neurology, University Hospitals of Lyon, HCL, Member of ERN Epicare, France; Neuroscience Department (A.V., T.P., R.G.) IRCCS, Children's Hospital Meyer, Member of ERN Epicare, and University of Florence, Italy; Univ Lyon (L.M., N.P., D.S., N.C., J.C., G.L.), Univ Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, France; Pediatric Neurology Unit (C.M.K., J.F.), University Hospitals of Geneva, Switzerland; Child Neurology and Psychiatric Unit (C.M., E.C.), Children's Hospital G. Salesi, Azienda Universitaria Ospedaliera delle Marche, Ancona, Italy; Department of Neurology (B.M.A.), University Hospitals of Montpellier; Department of Genetics (D.S., N.C., A. Labalme, G.L.), University Hospitals of Lyon, HCL, Member of ERN Epicare, France; Paediatric Epilepsy Research (A.A.A.), Child Neurology Department, Member of the ERN EpiCARE, San Juan de Dios Children's Hospital, Barcelona, Spain; Division of Neurology (V.A.C., S.M.R., I.H.), and The Epilepsy NeuroGenetics Initiative (ENGIN) (V.A.C., S.M.R., K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (V.A.C., S.M.R., I.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Univ Rouen Normandie (F.L., G.N.), Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders; Department of Pediatric Neurology (G.A.M., A. Lebas), University Hospitals of Rouen; Department of Pediatric Neurology (H.O.T.), Hospital of Alpes Léman, Annemasse, France; Department of Pediatric Neurology (A.R.), Barcelona Children's Hospital, University of Barcelona, Spain; Developmental Neurosciences (A.N., M.A.K., K.R., R.S.), Zayed Centre for Research, University College of London, Great Ormond Street Hospital, Institute of Child Health, United Kingdom; Institute of Medical Genetics (P.J.), University of Zürich; Department of Neuropediatrics (G. Ramantani, K.S.), University Children's Hospital and University of Zürich, Switzerland; Department of Neurology (M.K.), Medical University of Vienna, Austria; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics (L.G.), Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany; Institute of Human Genetics (S.V.), Medical University of Innsbruck, Innsbruck, Austria; Werner-Forßmann-Krankenhaus (S.V., S.T.), Eberswalde, Germany; Pediatric Neurology Discipline (D.C.), Neurosciences Department, Carol Davila University of Medicine Bucharest; Pediatric Neurology Clinic (D.C.), Al Obregia Hospital, Center of Expertise for Pediatric Neurology Rare Disorders, Member of ERN EpiCARE, Bucharest, Romania; Institute of Clinical Molecular Biology (M.P., I.H.), Christian-Albrechts-University of Kiel, Germany; Mission Fullerton Genetics Center (C.H.-E.), Asheville, NC; Department of Neurology (I.K.), Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow; Department of Medical Genetics (I.R.), Kazan State University, Russia; Division of Child Neurology (D.S.R.), Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, PA; Department of Molecular and Human Genetics (J.A.R.), Baylor College of Medicine, Houston, TX; Division of Clinical Genetics and Dysmorphology (M.A., K.G., J.M.G.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (A.I.), University Hospitals of Armand Trousseau, AP-HP, Paris; Department of Pediatric Neurology (N.V.), University Hospitals of Marseille, AP-HM; Univ. Lille (T.S.), CHU Lille, ULR7364, RADEME, Institute of Medical Genetics; Department of Clinical Genetics (R.C.), CHU Lille, France; Institute of Human Genetics (P.Z., S.N., K.P., T.B., I.M., M.R., R.A.J.), University of Leipzig Medical Center, Germany; Institute of Human Genetics (S.T.), Medical University of Innsbruck, Austria; Department of Biomedical and Health Informatics (DBHi) (I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (F.E.J., K.K.), Brain Center UMC Utrecht, Member of ERN Epicare, Utrecht, the Netherlands; Department of Neurology (G. Rudolf), Strasbourg University Hospital; and Nantes Université (S.K.), CHU Nantes, Service de Génétique Médicale, and CNRS, INSERM, l'institut du thorax, France.