Article
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Journal of human genetics - 1 Jan 2018
Zeng Qi, Yang Xiaoling, Zhang Jing, Liu Aijie, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yuehua
Abstract excerpt
Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencing and targeted next-generation sequencing to detect gene mutations in a Chinese cohort of patients with these three disorders. A total of 79 families were collected,...
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