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In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.
Nissenkorn, Andreea; Almog, Yael; Adler, Inbar; Safrin, Mary; Brusel, Marina; Marom, Milit; Bercovich, Shayel; Yakubovich, Daniel; Tzadok, Michal; Ben-Zeev, Bruria; Rubinstein, Moran.
Afiliação
  • Nissenkorn A; Service for Rare Disorders, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.
  • Almog Y; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.
  • Adler I; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Safrin M; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Brusel M; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Marom M; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
  • Bercovich S; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Yakubovich D; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Tzadok M; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Ben-Zeev B; The Arrow Project, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.
  • Rubinstein M; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
PLoS One ; 14(2): e0211901, 2019.
Article em En | MEDLINE | ID: mdl-30735520
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Disfunção Cognitiva / Canal de Sódio Disparado por Voltagem NAV1.1 Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Disfunção Cognitiva / Canal de Sódio Disparado por Voltagem NAV1.1 Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Ano de publicação: 2019 Tipo de documento: Article