ATP6V1A variants are associated with childhood epilepsy with favorable outcome

Bin Li,Song Lan,Xiao-Rong Liu,Jing-Jing Ji,Yun-Yan He,Dong-Ming Zhang, Jie Xu, Hui Sun,Zhen Shi,Jie Wang,Yang Tian

Seizure（2023）

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摘要

•We identified three de novo ATP6V1A variants in three cases with focal epilepsy.•All patients showed good response to drugs with normal psychomotor development.•Monoallelic variants are associated with epilepsy with variable severity.•Biallelic variants result in more severe multi-system developmental abnormalities.

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关键词

ATP6V1A,Childhood-onset,Genotype-phenotype correlation,Focal epilepsy

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