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Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
Yoshida, M; Nakashima, M; Okanishi, T; Kanai, S; Fujimoto, A; Itomi, K; Morimoto, M; Saitsu, H; Kato, M; Matsumoto, N; Chiyonobu, T.
Afiliação
  • Yoshida M; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Okanishi T; Department of Child Neurology, Seirei-Hamamatsu General Hospital, Hamamatsu, Japan.
  • Kanai S; Department of Child Neurology, Seirei-Hamamatsu General Hospital, Hamamatsu, Japan.
  • Fujimoto A; Seirei-Hamamatsu General Hospital, Comprehensive Epilepsy Center, Hamamatsu, Japan.
  • Itomi K; Department of Neurology, Aichi Children's Health and Medical Center, Aichi, Japan.
  • Morimoto M; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Chiyonobu T; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Clin Genet ; 93(2): 368-373, 2018 02.
Article em En | MEDLINE | ID: mdl-28589569
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas Nucleares / Proteínas de Transporte / Epilepsia / Deficiência Intelectual Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas Nucleares / Proteínas de Transporte / Epilepsia / Deficiência Intelectual Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão