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De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Ambrosino, Paolo; Soldovieri, Maria Virginia; Bast, Thomas; Turnpenny, Peter D; Uhrig, Sabine; Biskup, Saskia; Döcker, Miriam; Fleck, Thilo; Mosca, Ilaria; Manocchio, Laura; Iraci, Nunzio; Taglialatela, Maurizio; Lemke, Johannes R.
  • Ambrosino P; Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, Campobasso, Italy.
  • Soldovieri MV; Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, Campobasso, Italy.
  • Bast T; Epilepsy Center Kork, Kehl, Germany.
  • Turnpenny PD; Faculty of Medicine of the University of Freiburg, Freiburg, Germany.
  • Uhrig S; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Biskup S; Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.
  • Döcker M; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Fleck T; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Mosca I; University Heart Center Freiburg-Bad Krozingen, Department of Congenital Heart Disease and Pediatric Cardiology, Medical Center-University of Freiburg, Freiburg, Germany.
  • Manocchio L; Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, Campobasso, Italy.
  • Iraci N; Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, Campobasso, Italy.
  • Taglialatela M; Department of Pharmacy, University of Salerno, Fisciano, Salerno, Italy.
  • Lemke JR; Department of Neuroscience, University of Naples "Federico II", Naples, Italy.
Ann Neurol ; 83(6): 1198-1204, 2018 06.
Article en En | MEDLINE | ID: mdl-29740868
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Canales de Potasio / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Newborn Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Canales de Potasio / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Newborn Idioma: En Año: 2018 Tipo del documento: Article