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Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
Saitoh, Makiko; Ishii, Atsushi; Ihara, Yukiko; Hoshino, Ai; Terashima, Hiroshi; Kubota, Masaya; Kikuchi, Kenjiro; Yamanaka, Gaku; Amemiya, Kaoru; Hirose, Shinichi; Mizuguchi, Masashi.
Afiliação
  • Saitoh M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. Electronic address: makisaito-tky@umin.ac.jp.
  • Ishii A; Department of Pediatrics, Fukuoka University, Fukuoka, Japan.
  • Ihara Y; Department of Pediatrics, Fukuoka University, Fukuoka, Japan.
  • Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Terashima H; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
  • Kubota M; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
  • Kikuchi K; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
  • Yamanaka G; Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.
  • Amemiya K; Department of Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Hirose S; Department of Pediatrics, Fukuoka University, Fukuoka, Japan.
  • Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Epilepsy Res ; 117: 1-6, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26311622

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Convulsões Febris / Canal de Sódio Disparado por Voltagem NAV1.1 / Canal de Sódio Disparado por Voltagem NAV1.2 Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Convulsões Febris / Canal de Sódio Disparado por Voltagem NAV1.1 / Canal de Sódio Disparado por Voltagem NAV1.2 Idioma: En Ano de publicação: 2015 Tipo de documento: Article