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
Autores principales: Yamamoto, Toshiyuki, Shimojima, Keiko, Kimura, Nobusuke, Mogami, Yukiko, Usui, Daisuke, Takayama, Rumiko, Ikeda, Hiroko, Imai, Katsumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785533/
https://www.ncbi.nlm.nih.gov/pubmed/27081548
http://dx.doi.org/10.1038/hgv.2015.42

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785533/
https://www.ncbi.nlm.nih.gov/pubmed/27081548
http://dx.doi.org/10.1038/hgv.2015.42

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