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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar, Claire; Barcia, Giulia; Jennesson, Mélanie; Le Guyader, Gwenaël; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; Billette de Villemeur, Thierry; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Hervé; Poisson, Alice; Dupont, Sophie; Berquin, Patrick; Meyer, Pierre; Genevieve, David; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Guët, Agnès; Scalais, Emmanuel; Dorison, Nathalie; Myers, Candace T; Mefford, Heather C; Howell, Katherine B; Marini, Carla; Freeman, Jeremy L; Nica, Anca; Terrone, Gaetano; Sekhara, Tayeb; Lebre, Anne-Sophie; Odent, Sylvie; Sadleir, Lynette G; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E; Kabashi, Edor; Nabbout, Rima.
Afiliación
  • Bar C; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, Paris, France.
  • Barcia G; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Jennesson M; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
  • Le Guyader G; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Schneider A; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
  • Mignot C; Department of genetics, Necker Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Lesca G; Department of Pediatrics, American Memorial Hospital, Reims, France.
  • Breuillard D; Department of genetics, University hospital Poitiers, Poitiers Cedex, France.
  • Montomoli M; EA3808-NEUVACOD Unité Neurovasculaire et Troubles Cognitifs, Pôle Biologie Santé, Université de Poitiers, Poitiers, France.
  • Keren B; Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.
  • Doummar D; Institut du Cerveau et de la Moelle épinière, INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris, France.
  • Billette de Villemeur T; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.
  • Afenjar A; Department of genetics, Hospices Civils de Lyon, Lyon, France.
  • Marey I; Neurosciences centre of Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Bron Cedex, France.
  • Gerard M; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, Paris, France.
  • Isnard H; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Poisson A; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.
  • Dupont S; Department of Pediatric Neurology, Hôpital Armand Trousseau, AP-HP, Paris, France.
  • Berquin P; Department of Pediatric Neurology, Hôpital Armand Trousseau, AP-HP, Paris, France.
  • Meyer P; Département de Génétique et Embryologie Médicale, Pathologies Congénitales du Cervelet-LeucoDystrophies, Centre de Référence déficiences intellectuelles de causes rares, AP-HP, Hôpital Armand Trousseau, GRC n°19, Sorbonne Université, Paris, France.
  • Genevieve D; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.
  • De Saint Martin A; Department of genetics, CHU Côte de Nacre, Caen, France.
  • El Chehadeh S; Neurology clinic, Lyon, France.
  • Chelly J; Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Team, Centre National de la Recherche Scientifique & Lyon 1 Claude Bernard University, Villeurbanne, France.
  • Guët A; Institut du Cerveau et de la Moelle épinière, INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris, France.
  • Scalais E; Epileptology and Rehabilitation department, GH Pitie-Salpêtrière-Charles Foix, AP-HP, Paris, France.
  • Dorison N; Department of pediatric neurology Amiens-Picardie university hospital, Université de Picardie Jules Verne, Amiens, France.
  • Myers CT; Department of pediatric neurology, Montpellier university hospital, Montpellier, France.
  • Mefford HC; PhyMedExp, U1046 INSERM, UMR9214 CNRS, Montpellier, France.
  • Howell KB; Service de génétique clinique et du Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de référence maladies rares anomalies du développement, CHU Montpellier, Montpellier, France.
  • Marini C; Department of Pediatric Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Freeman JL; Department of genetics, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Nica A; Department of genetics, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Terrone G; Department of Pediatric, Louis-Mourier Hospital, Colombes, France.
  • Sekhara T; Department of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg City, Luxembourg.
  • Lebre AS; Department of pediatric Neurosurgery, Rothschild Foundation Hospital, Paris, France.
  • Odent S; Department of Pediatrics, University of Washington, Seattle, Washington.
  • Sadleir LG; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington.
  • Munnich A; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.
  • Guerrini R; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Scheffer IE; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Kabashi E; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.
  • Nabbout R; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Hum Mutat ; 41(1): 69-80, 2020 01.
Article en En | MEDLINE | ID: mdl-31513310
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Epilepsia / Canales de Potasio Shab / Estudios de Asociación Genética / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Epilepsia / Canales de Potasio Shab / Estudios de Asociación Genética / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article