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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G; Breuillard, Delphine; Levy, Raphael; Rio, Marlène; Dupont, Sophie; Negrin, Susanna; Danieli, Alberto; Scalais, Emmanuel; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Poisson, Alice; Lebre, Anne-Sophie; Nica, Anca; Odent, Sylvie; Sekhara, Tayeb; Brankovic, Vesna; Goldenberg, Alice; Vrielynck, Pascal; Lederer, Damien; Maurey, Hélène; Terrone, Gaetano; Besmond, Claude; Hubert, Laurence; Berquin, Patrick; Billette de Villemeur, Thierry; Isidor, Bertrand; Freeman, Jeremy L; Mefford, Heather C; Myers, Candace T; Howell, Katherine B; Rodríguez-Sacristán Cascajo, Andrés; Meyer, Pierre; Genevieve, David; Guët, Agnès.
Afiliação
  • Bar C; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.
  • Kuchenbuch M; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.
  • Barcia G; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.
  • Schneider A; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.
  • Jennesson M; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.
  • Le Guyader G; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.
  • Lesca G; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.
  • Mignot C; Department of Pediatrics, American Memorial Hospital, Reims, France.
  • Montomoli M; Department of Genetics, Poitiers University Hospital Center, Poitiers Cedex, France.
  • Parrini E; EA3808-NEUVACOD Neurovascular and Cognitive Disorders Unit, University of Poitiers, Poitiers, France.
  • Isnard H; Department of Genetics, Lyon Civil Hospices, Lyon, France.
  • Rolland A; 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.
  • Keren B; 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.
  • Afenjar A; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
  • Dorison N; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Sadleir LG; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Breuillard D; Pediatric Neurologist, Medical Office, Lyon, France.
  • Levy R; Department of Pediatrics, Nantes University Hospital Center, Nantes, France.
  • Rio M; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
  • Dupont S; 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.
  • Negrin S; Pediatric Neurosurgery Department, Rothschild Foundation Hospital, Paris, France.
  • Danieli A; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France.
  • Scalais E; Department of Pediatrics and Child Health, University of Otago, Wellington, New Zealand.
  • De Saint Martin A; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.
  • El Chehadeh S; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.
  • Chelly J; Department of Pediatric Radiology, Necker-Enfants Malades Hospital, Paris, France.
  • Poisson A; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.
  • Lebre AS; Laboratory of Developmental Brain Disorders, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, Sorbonne University, Paris, France.
  • Nica A; 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.
  • Odent S; Epileptology Unit and Rehabilitation Unit, AP-HP, Pitie-Salpêtrière-Charles Foix Hospital, Paris, France.
  • Sekhara T; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy.
  • Brankovic V; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy.
  • Goldenberg A; Pediatric Neurology Unit, Luxembourg Hospital Center, Luxembourg City, Luxembourg.
  • Vrielynck P; Department of Pediatric Neurology, Strasbourg University Hospital, Hautepierre Hospital, Strasbourg, France.
  • Lederer D; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France.
  • Maurey H; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France.
  • Terrone G; 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.
  • Besmond C; Reims University Hospital Center, Maison Blanche Hospital, Biology Department, Reims, France.
  • Hubert L; Neurology Department, Center for Clinical Research (CIC 1414), Rennes University Hospital, Rennes, France.
  • Berquin P; Laboratory of Signal Processing, National Institute of Health and Medical Research Mixed Unit of Research 1099, Rennes, France.
  • Billette de Villemeur T; Reference Center for Rare Developmental Abnormalities CLAD-Ouest, Rennes University Hospital Center, Rennes, France.
  • Isidor B; National Center for Scientific Research Mixed Unit of Research 6290, Institute of Genetics and Development of Rennes (IGDR), University of Rennes, Rennes, France.
  • Freeman JL; Department of Pediatric Neurology, C.H.I.R.E.C, Brussels, Belgium.
  • Mefford HC; Clinic for Child Neurology and Psychiatry, Belgrade, Serbia.
  • Myers CT; Reference Center for Developmental Anomalies and Malformation Syndromes, Rouen University Hospital Center, Rouen, France.
  • Howell KB; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium.
  • Rodríguez-Sacristán Cascajo A; Human Genetic Center, IPG, Gosselies, Belgium.
  • Meyer P; Department of Pediatric Neurology, AP-HP, Bicêtre University Hospital, Kremlin Bicêtre, France.
  • Genevieve D; Department of Translational Medical Sciences, Section of Pediatrics, Child Neurology Unit, Federico II University, Naples, Italy.
  • Guët A; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France.
Epilepsia ; 61(11): 2461-2473, 2020 11.
Article em En | MEDLINE | ID: mdl-32954514
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encefalopatias / Epilepsia / Canais de Potássio Shab Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encefalopatias / Epilepsia / Canais de Potássio Shab Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França