シモジマ ケイコ   Shimojima Keiko
  下島 圭子
   所属   医学部 医学科(東京女子医科大学病院)
   職種   助教
論文種別 原著
言語種別 英語
査読の有無 査読あり
表題 Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
掲載誌名 正式名:Human Genome Variation
略  称:Hum Genome Var
ISSNコード:(2054-345X)2054-345X(Linking)
掲載区分国外
巻・号・頁 2,pp.15042
著者・共著者 Yamamoto T, Shimojima K, Kimura N, Mogami Y, Usui D, Takayama R, Ikeda H, Imai K
発行年月 2015
概要 The cyclin-dependent kinase-like 5 gene (CDKL5) is recognized as one of the genes responsible for epileptic encephalopathy. We identified CDKL5 mutations in five Japanese patients (one male and four female) with epileptic encephalopathy. Although all mutations were of de novo origin, they were located in the same positions as previously reported pathogenic mutations. These recurrent occurrences of de novo mutations in the same loci may indicate hot spots of nucleotide alteration.
DOI 10.1038/hgv.2015.42
PMID 27081548