Article
CHD2-related epilepsy: novel mutations and new phenotypes.
Developmental medicine and child neurology - 1 May 2020
Chen Jiaoyang, Zhang Jing, Liu Aijie, Zhang Liping, Li Hua, Zeng Qi, Yang Zhixian, Yang Xiaoling, Wu Xiru, Zhang Yuehua
Abstract excerpt
The aim of this report was to refine the genotypes and phenotypes of chromodomain helicase DNA-binding protein 2 (CHD2)-related epilepsy. Seventeen patients with CHD2 mutations were enrolled. CHD2 mutations were identified by application of next-generation sequencing of epilepsy or whole exome sequencing. Sixteen mutations were identified, among which 15 have not yet been reported. Thirteen mutations were de...
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