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A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.
Kojima, Karin; Shirai, Kentaro; Kobayashi, Mizuki; Miyauchi, Akihiko; Saitsu, Hirotomo; Matsumoto, Naomichi; Osaka, Hitoshi; Yamagata, Takanori.
Afiliação
  • Kojima K; Department of Pediatrics, Jichi Medical University, Japan.
  • Shirai K; Department of Pediatrics, Tsuchiura Kyodo Hospital, Japan.
  • Kobayashi M; Department of Pediatrics, Jichi Medical University, Japan.
  • Miyauchi A; Department of Pediatrics, Jichi Medical University, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan; Department of Biochemistry, Hamamatsu Medical University, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
  • Osaka H; Department of Pediatrics, Jichi Medical University, Japan.
  • Yamagata T; Department of Pediatrics, Jichi Medical University, Japan. Electronic address: takanori@jichi.ac.jp.
Brain Dev ; 40(1): 69-73, 2018 Jan.
Article em En | MEDLINE | ID: mdl-28687180
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas / Canal de Potássio KCNQ2 Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas / Canal de Potássio KCNQ2 Idioma: En Ano de publicação: 2018 Tipo de documento: Article