Your browser doesn't support javascript.
loading
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Ohba, Chihiro; Shiina, Masaaki; Tohyama, Jun; Haginoya, Kazuhiro; Lerman-Sagie, Tally; Okamoto, Nobuhiko; Blumkin, Lubov; Lev, Dorit; Mukaida, Souichi; Nozaki, Fumihito; Uematsu, Mitsugu; Onuma, Akira; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Kato, Mitsuhiro; Ogata, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi.
Afiliação
  • Ohba C; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Shiina M; Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
  • Tohyama J; Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Haginoya K; Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
  • Lerman-Sagie T; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
  • Okamoto N; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
  • Blumkin L; Department of Medical Genetics, Osaka Medical Center, Research Institute for Maternal and Child Health, Osaka, Japan.
  • Lev D; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
  • Mukaida S; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
  • Nozaki F; Department of Pediatric Neurology, National Hospital Organization Utano Hospital, Kyoto, Japan.
  • Uematsu M; Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan.
  • Onuma A; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Kodera H; Department of Pediatrics, Ekoh-Ryoikuen, Sendai, Japan.
  • Nakashima M; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Tsurusaki Y; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, 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.
  • Kato M; Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
  • Ogata K; Department of Pediatrics, Faculty of Medicine, Yamagata University, Yamagata, Japan.
  • Saitsu H; Department of Biochemistry, 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(6): 841-8, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25864721
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Receptores de N-Metil-D-Aspartato / Transtorno de Movimento Estereotipado / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Epilepsia / Hipercinese / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Receptores de N-Metil-D-Aspartato / Transtorno de Movimento Estereotipado / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Epilepsia / Hipercinese / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article