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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Detalles Bibliográficos
Publicado en:Hum Genome Var
Main Authors: Yamamoto, Toshiyuki, Shimojima, Keiko, Kimura, Nobusuke, Mogami, Yukiko, Usui, Daisuke, Takayama, Rumiko, Ikeda, Hiroko, Imai, Katsumi
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2015
Assuntos:
Data Report
Acceso en liña: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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