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Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.
Ishii, Atsushi; Watkins, Joseph C; Chen, Debbie; Hirose, Shinichi; Hammer, Michael F.
Afiliación
  • Ishii A; ARL Division of Biotechnology, University of Arizona, Tucson, Arizona, U.S.A.
  • Watkins JC; Department of Pediatrics, School of Medicine and Central Research Institute for the Molecular Pathogeneses of Epilepsy, Fukuoka University, Fukuoka, Japan.
  • Chen D; Department of Mathematics, University of Arizona, Tucson, Arizona, U.S.A.
  • Hirose S; ARL Division of Biotechnology, University of Arizona, Tucson, Arizona, U.S.A.
  • Hammer MF; Department of Pediatrics, School of Medicine and Central Research Institute for the Molecular Pathogeneses of Epilepsy, Fukuoka University, Fukuoka, Japan.
Epilepsia ; 58(2): 282-290, 2017 02.
Article en En | MEDLINE | ID: mdl-28012175

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Mutación Missense / Haploinsuficiencia / Canal de Sodio Activado por Voltaje NAV1.1 Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Epilepsia Año: 2017 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Mutación Missense / Haploinsuficiencia / Canal de Sodio Activado por Voltaje NAV1.1 Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Epilepsia Año: 2017 Tipo del documento: Article