Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
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DOI：
10.1038/hgv.2015.42
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发表时间：
2015
影响因子：
1.5
通讯作者：
Imai K
中科院分区：
文献类型：
--
作者：
Yamamoto T;Shimojima K;Kimura N;Mogami Y;Usui D;Takayama R;Ikeda H;Imai K
细胞周期蛋白依赖性激酶样5基因（CDKL5）被认为是导致癫痫性脑病的基因之一。我们在五名日本癫痫性脑病患者（一名男性和四名女性）中发现了 CDKL5 突变。尽管所有突变都是从头开始的，但它们的位置与之前报道的致病突变相同。这些在相同基因座中反复发生的从头突变可能表明核苷酸改变的热点。
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.