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De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Ohba, Chihiro; Kato, Mitsuhiro; Takahashi, Nobuya; Osaka, Hitoshi; Shiihara, Takashi; Tohyama, Jun; Nabatame, Shin; Azuma, Junji; Fujii, Yuji; Hara, Munetsugu; Tsurusawa, Reimi; Inoue, Takahito; Ogata, Reina; Watanabe, Yoriko; Togashi, Noriko; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Saitsu, Hirotomo; Matsumoto, Naomichi.
Afiliación
  • Ohba C; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Kato M; Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
  • Takahashi N; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Osaka H; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Shiihara T; Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Tohyama J; Department of Pediatrics, Jichi Medical School, Shimotsuke, Tochigi, Japan.
  • Nabatame S; Department of Neurology, Gunma Children's Medical Center, Shibukawa, Japan.
  • Azuma J; Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
  • Fujii Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Hara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Tsurusawa R; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
  • Inoue T; Department of Neonatology, Medical Center for Maternal and Child Health, St. Mary's Hospital, Kurume, Japan.
  • Ogata R; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Watanabe Y; Department of Pediatrics, Fukuoka University Chikushi Hospital, Fukuoka, Japan.
  • Togashi N; Department of Pediatrics, Fukuoka University Chikushi Hospital, Fukuoka, Japan.
  • Kodera H; Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
  • Nakashima M; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Tsurusaki Y; Department of Neurology, Miyagi Children's Hospital, Sendai, Japan.
  • Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Tanaka F; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Saitsu H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Epilepsia ; 56(9): e121-8, 2015 Sep.
Article en En | MEDLINE | ID: mdl-26140313
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Canales de Potasio / Mutación / Proteínas del Tejido Nervioso Límite: Child / Child, preschool / Humans / Infant Idioma: En Revista: Epilepsia Año: 2015 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Canales de Potasio / Mutación / Proteínas del Tejido Nervioso Límite: Child / Child, preschool / Humans / Infant Idioma: En Revista: Epilepsia Año: 2015 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos