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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus, Andreas; Du, Juanjiangmeng; Steckler, Felix; Ghanty, Ismael I; Johannesen, Katrine M; Fenger, Christina Dühring; Schorge, Stephanie; Baez-Nieto, David; Wang, Hao-Ran; Allen, Andrew; Pan, Jen Q; Lerche, Holger; Heyne, Henrike; Symonds, Joseph D; Zuberi, Sameer M; Sanders, Stephan; Sheidley, Beth R; Craiu, Dana; Olson, Heather E; Weckhuysen, Sarah; DeJonge, Peter; Helbig, Ingo; Van Esch, Hilde; Busa, Tiffany; Milh, Matthieu; Isidor, Bertrand; Depienne, Christel; Poduri, Annapurna; Campbell, Arthur J; Dimidschstein, Jordane; Møller, Rikke S; Lal, Dennis.
  • Brunklaus A; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.
  • Du J; School of Medicine, University of Glasgow, Glasgow, UK.
  • Steckler F; Cologne Center for Genomics, University of Cologne, University Hospital Cologne, Cologne, Germany.
  • Ghanty II; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.
  • Johannesen KM; School of Medicine, University of Glasgow, Glasgow, UK.
  • Fenger CD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.
  • Schorge S; School of Medicine, University of Glasgow, Glasgow, UK.
  • Baez-Nieto D; Deparment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Wang HR; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Allen A; Deparment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Pan JQ; Amplexa Genetics, Odense, Denmark.
  • Lerche H; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.
  • Heyne H; School of Pharmacy, University College London, London, UK.
  • Symonds JD; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
  • Zuberi SM; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
  • Sanders S; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
  • Sheidley BR; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
  • Craiu D; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany.
  • Olson HE; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
  • Weckhuysen S; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
  • DeJonge P; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
  • Helbig I; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.
  • Van Esch H; School of Medicine, University of Glasgow, Glasgow, UK.
  • Busa T; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.
  • Milh M; School of Medicine, University of Glasgow, Glasgow, UK.
  • Isidor B; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California.
  • Depienne C; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Poduri A; Carol Davila University of Medicine, Department of Clinical Neurosciences, Pediatric Neurology Discipline, Bucharest, Romania.
  • Campbell AJ; Alexandru Obregia Hospital, Pediatric Neurology Clinic, Bucharest, Romania.
  • Dimidschstein J; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Møller RS; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Lal D; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Epilepsia ; 61(3): 387-399, 2020 03.
Article en En | MEDLINE | ID: mdl-32090326
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Canales de Sodio / Canal de Sodio Activado por Voltaje NAV1.1 / Canal de Sodio Activado por Voltaje NAV1.2 / Canal de Sodio Activado por Voltaje NAV1.3 / Canal de Sodio Activado por Voltaje NAV1.6 / Síndromes Epilépticos Tipo de estudio: Prognostic_studies Idioma: En Año: 2020 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Canales de Sodio / Canal de Sodio Activado por Voltaje NAV1.1 / Canal de Sodio Activado por Voltaje NAV1.2 / Canal de Sodio Activado por Voltaje NAV1.3 / Canal de Sodio Activado por Voltaje NAV1.6 / Síndromes Epilépticos Tipo de estudio: Prognostic_studies Idioma: En Año: 2020 Tipo del documento: Article