Article
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
BMC neurology - 26 Dec 2013
Yang Xiaoling, Zhang Yuehua, Xu Xiaojing, Wang Shuang, Yang Zhixian, Wu Ye, Liu Xiaoyan, Wu Xiru
Abstract excerpt
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 Chinese families with BFIE and ICCA. METHODS: Clinical data were collected from 22 families with BFIE and eight...
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