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J-GLOBAL ID：201802236661443446   Reference number：18A0464463

Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum

てんかん性脳症患者における新規BCL11A変異体の同定:表現型スペクトルの拡大【Powered by NICT】

Author (11)： 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)
Material： Clinical Genetics  (Clin Genet)
Volume： 93  Issue： 2  Page： 368-373  Publication year： 2018 
JST Material Number： E0526B  ISSN： 0009-9163  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： BCL11A encodes a zinc finger p...

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Thesaurus term： infantile epilepsy ,  pathogenicity ,  drug resistance ,  *patient ,  *phenotype ,  *variation(biology) ,  intelligence disorder ,  frameshift mutation ,  *spectrum ,  *epilepsy ,  repressor
Semi thesaurus term： 部分てんかん ,  ハプロ不全 ,  エクソーム ,  亜鉛フィンガー蛋白質 , 【Automatic Indexing@JST】

Author keywords (4)： BCL11A ,  epileptic encephalopathy ,  fetal hemoglobin ,  whole-exome sequencing

JST classification (1)： Nervous system diseases  (GN03000O)

Terms in the title (7)： てんかん性脳症 ,  患者 ,  変異体 ,  同定 ,  表現型 ,  スペクトル ,  拡大