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Shimojima Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. |
| Journal | Formal name：Human Genome Variation Abbreviation：Hum Genome Var ISSN code：(2054-345X)2054-345X(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 2,pp.15042 |
| Author and coauthor | Yamamoto T, Shimojima K, Kimura N, Mogami Y, Usui D, Takayama R, Ikeda H, Imai K |
| Publication date | 2015 |
| Summary | 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 |