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GRIN2D variants in three cases of developmental and epileptic encephalopathy.
Tsuchida, Naomi; Hamada, Keisuke; Shiina, Masaaki; Kato, Mitsuhiro; Kobayashi, Yu; Tohyama, Jun; Kimura, Kazue; Hoshino, Kyoko; Ganesan, Vigneswari; Teik, Keng W; Nakashima, Mitsuko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Ogata, Kazuhiro; Miyatake, Satoko; Matsumoto, Naomichi.
Afiliação
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Hamada K; Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Shiina M; Department of Biochemistry, Yokohama City University Graduate School of medicine, Yokohama, Japan.
  • Kato M; Department of Biochemistry, Yokohama City University Graduate School of medicine, Yokohama, Japan.
  • Kobayashi Y; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Tohyama J; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Kimura K; Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Japan.
  • Hoshino K; Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Japan.
  • Ganesan V; Segawa Memorial Neurological Clinic for Children, Tokyo, Japan.
  • Teik KW; Segawa Memorial Neurological Clinic for Children, Tokyo, Japan.
  • Nakashima M; Department of Pediatrics, Hospital Pulau Pinang, Pulau Pinang, Malaysia.
  • Mitsuhashi S; Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takata A; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ogata K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Clin Genet ; 94(6): 538-547, 2018 12.
Article em En | MEDLINE | ID: mdl-30280376

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Deficiências do Desenvolvimento / Receptores de N-Metil-D-Aspartato / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão País de publicação: Dinamarca

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Deficiências do Desenvolvimento / Receptores de N-Metil-D-Aspartato / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão País de publicação: Dinamarca