Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
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ABSTRACT:
SUBMITTER: Yamamoto T
PROVIDER: S-EPMC4785533 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto Toshiyuki T Shimojima Keiko K Kimura Nobusuke N Mogami Yukiko Y Usui Daisuke D Takayama Rumiko R Ikeda Hiroko H Imai Katsumi K
Human genome variation 20151105
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. ...[more]
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