Article
Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
Developmental medicine and child neurology - 1 Jan 2022
Niu Xueyang, Yang Ying, Chen Yi, Cheng Miaomiao, Liu Ming, Ding Changhong, Tian Xiaojuan, Yang Zhixian, Jiang Yuwu, Zhang Yuehua
Abstract excerpt
AIM: To explore the genotypes and phenotypes of CACNA1A variants in children with epilepsy. METHOD: Eighteen children (six males, 12 females) with CACNA1A variants were identified using next-generation sequencing. RESULTS: There were 14 missense variants, two nonsense variants, one frameshift variant, and one splice site variant. Sixteen variants were de novo. Age at seizure onset ranged from 1 day to 8 years;...
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