Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy

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 locat...

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Bibliografski detalji
Izdano u:Hum Genome Var
Glavni autori: Yamamoto, Toshiyuki, Shimojima, Keiko, Kimura, Nobusuke, Mogami, Yukiko, Usui, Daisuke, Takayama, Rumiko, Ikeda, Hiroko, Imai, Katsumi
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
Teme:
Data Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785533/
https://ncbi.nlm.nih.gov/pubmed/27081548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.42
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