Article
[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2014
Yang Xiaoling, Zhang Yuehua, Xu Xiaojing, Wang Shuang, Yang Zhixian, Wu Ye, Zhang Xiuju, Liu Xiaoyan, Wu Xiru
Abstract excerpt
OBJECTIVE: To analyze the phenotypes and proline-rich transmenbrane protein 2 (PRRT2) gene mutations in patients of infantile convulsions with paroxysmal choreoathetosis (ICCA). METHODS: Clinical data were collected from ICCA patients and their family members. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations of PRRT2 were screened using PCR amplification and Sanger...
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