ヤマモト　トシユキ   Toshiyuki Yamamoto   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
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
担当区分	筆頭著者,責任著者
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