Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
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| Title: | Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. |
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| Authors: | Bar C; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France., Kuchenbuch M; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France., Barcia G; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France., Schneider A; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia., Jennesson M; Department of Pediatrics, American Memorial Hospital, Reims, France., Le Guyader G; Department of Genetics, Poitiers University Hospital Center, Poitiers Cedex, France.; EA3808-NEUVACOD Neurovascular and Cognitive Disorders Unit, University of Poitiers, Poitiers, France., Lesca G; Department of Genetics, Lyon Civil Hospices, Lyon, France.; NeuroMyoGène Institute, National Center for Scientific Research, Mixed Unit of Research 5310, National Institute of Health and Medical Research U1217, University of Lyon, Claude Bernard Lyon 1 University, Villeurbanne, France., Mignot C; National Institute of Health and Medical Research, U1127, National Center for Scientific Research Mixed Unit of Research 7225, Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127, Brain and Spine Institute, Sorbonne University, Paris, France.; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Montomoli M; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Parrini E; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Isnard H; Pediatric Neurologist, Medical Office, Lyon, France., Rolland A; Department of Pediatrics, Nantes University Hospital Center, Nantes, France., Keren B; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Afenjar A; Department of Genetics and Medical Embryology, Reference Center for Malformations and Congenital Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities, Sorbonne University, AP-HP, Trousseau Hospital, Paris, France., Dorison N; Pediatric Neurosurgery Department, Rothschild Foundation Hospital, Paris, France.; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France., Sadleir LG; Department of Pediatrics and Child Health, University of Otago, Wellington, New Zealand., Breuillard D; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France., Levy R; Department of Pediatric Radiology, Necker-Enfants Malades Hospital, Paris, France., Rio M; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Laboratory of Developmental Brain Disorders, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, Sorbonne University, Paris, France., Dupont S; National Institute of Health and Medical Research, U1127, National Center for Scientific Research Mixed Unit of Research 7225, Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127, Brain and Spine Institute, Sorbonne University, Paris, France.; Epileptology Unit and Rehabilitation Unit, AP-HP, Pitie-Salpêtrière-Charles Foix Hospital, Paris, France., Negrin S; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy., Danieli A; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy., Scalais E; Pediatric Neurology Unit, Luxembourg Hospital Center, Luxembourg City, Luxembourg., De Saint Martin A; Department of Pediatric Neurology, Strasbourg University Hospital, Hautepierre Hospital, Strasbourg, France., El Chehadeh S; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France., Chelly J; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France., Poisson A; GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, le Vinatier Hospital Center and EDR-Psy Team (National Center for Scientific Research and Lyon 1 Claude Bernard University), Villeurbanne, France., Lebre AS; Reims University Hospital Center, Maison Blanche Hospital, Biology Department, Reims, France., Nica A; Neurology Department, Center for Clinical Research (CIC 1414), Rennes University Hospital, Rennes, France.; Laboratory of Signal Processing, National Institute of Health and Medical Research Mixed Unit of Research 1099, Rennes, France., Odent S; Reference Center for Rare Developmental Abnormalities CLAD-Ouest, Rennes University Hospital Center, Rennes, France.; National Center for Scientific Research Mixed Unit of Research 6290, Institute of Genetics and Development of Rennes (IGDR), University of Rennes, Rennes, France., Sekhara T; Department of Pediatric Neurology, C.H.I.R.E.C, Brussels, Belgium., Brankovic V; Clinic for Child Neurology and Psychiatry, Belgrade, Serbia., Goldenberg A; Reference Center for Developmental Anomalies and Malformation Syndromes, Rouen University Hospital Center, Rouen, France., Vrielynck P; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium., Lederer D; Human Genetic Center, IPG, Gosselies, Belgium., Maurey H; Department of Pediatric Neurology, AP-HP, Bicêtre University Hospital, Kremlin Bicêtre, France., Terrone G; Department of Translational Medical Sciences, Section of Pediatrics, Child Neurology Unit, Federico II University, Naples, Italy., Besmond C; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France., Hubert L; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France., Berquin P; Department of Pediatric Neurology, Amiens-Picardie University Hospital Center, University of Picardy Jules Verne, Amiens, France., Billette de Villemeur T; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France., Isidor B; Department of Clinical Genetics, Nantes University Hospital Center, Nantes, France., Freeman JL; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, United States., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, United States., Howell KB; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rodríguez-Sacristán Cascajo A; Pediatric Neurology Unit, Department of Pediatric, Virgen Macarena Hospital, Seville, Spain.; Department of Pediatrics, School of Medicine, University of Seville, Seville, Spain., Meyer P; Department of Pediatric Neurology, Montpellier University Hospital Center, Montpellier, France.; PhyMedExp, National Institute of Health and Medical Research, U1046, National Center for Scientific Research Mixed Unit of Research 9214, University of Montpellier, Montpellier, France., Genevieve D; Department of Medical Genetics, Rare Disease, and Personalized Medicine, IRMB, University of Montpellier, National Institute of Health and Medical Research, Montpellier University Hospital Center, Montpellier, France., Guët A; Department of Pediatrics, Louis-Mourier Hospital, Colombes, France., Doummar D; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France., Durigneux J; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia., van Dooren MF; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., de Wit MCY; Department of Pediatric Neurology and ENCORE Expertise Center, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands., Gerard M; Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France., Marey I; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Munnich A; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France., Guerrini R; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Scheffer IE; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia., Kabashi E; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France., Nabbout R; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France. |
| Source: | Epilepsia [Epilepsia] 2020 Nov; Vol. 61 (11), pp. 2461-2473. Date of Electronic Publication: 2020 Sep 21. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1528-1167 |
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| DOI: | 10.1111/epi.16679 |
