Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

BACKGROUND: Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations in...

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Autores principales: Yang, Xiaoling, Zhang, Yuehua, Xu, Xiaojing, Wang, Shuang, Yang, Zhixian, Wu, Ye, Liu, Xiaoyan, Wu, Xiru
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897939/
https://ncbi.nlm.nih.gov/pubmed/24370076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-13-209
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