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A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.
Nakamura, Kazuyuki; Nishiyama, Kiyomi; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Saitsu, Hirotomo; Jinnou, Hideo; Ohki, Shigeru; Yokochi, Kenji; Okanishi, Tohru; Enoki, Hideo.
Afiliação
  • Nakamura K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Nishiyama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Kodera H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan. Electronic address: hsaitsu@yokohama-cu.ac.jp.
  • Jinnou H; Department of Neonatology, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
  • Ohki S; Department of Neonatology, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
  • Yokochi K; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
  • Okanishi T; Department of Child Neurology, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
  • Enoki H; Department of Child Neurology, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
Brain Dev ; 36(3): 272-3, 2014 Mar.
Article em En | MEDLINE | ID: mdl-23623288
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tetralogia de Fallot / Atrofias Olivopontocerebelares / Mutação da Fase de Leitura / Epilepsias Mioclônicas / Guanilato Quinases Limite: Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tetralogia de Fallot / Atrofias Olivopontocerebelares / Mutação da Fase de Leitura / Epilepsias Mioclônicas / Guanilato Quinases Limite: Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article