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De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera, Hirofumi; Ohba, Chihiro; Kato, Mitsuhiro; Maeda, Toshiyuki; Araki, Kaoru; Tajima, Daisuke; Matsuo, Muneaki; Hino-Fukuyo, Naomi; Kohashi, Kosuke; Ishiyama, Akihiko; Takeshita, Saoko; Motoi, Hirotaka; Kitamura, Taro; Kikuchi, Atsuo; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Sasaki, Masayuki; Kure, Shigeo; Haginoya, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi.
  • Kodera H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ohba C; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kato M; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Maeda T; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Araki K; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
  • Tajima D; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
  • Matsuo M; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
  • Hino-Fukuyo N; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
  • Kohashi K; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Ishiyama A; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Takeshita S; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Motoi H; Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan.
  • Kitamura T; Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan.
  • Kikuchi A; Division of Pediatrics, Sendai City Hospital, Sendai, Japan.
  • Tsurusaki Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Sasaki M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kure S; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Haginoya K; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Saitsu H; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Matsumoto N; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
Epilepsia ; 57(4): 566-73, 2016 Apr.
Article en En | MEDLINE | ID: mdl-26918889
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Receptores de GABA-A / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Receptores de GABA-A / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2016 Tipo del documento: Article