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Article

A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree.

Clinical neurology and neurosurgery - 1 Oct 2023

Xiaoquan Chen, Yuting Lou, Pu Miao, Haiying Cheng, Zheng Wan, Ye Wang, Fan Yang, Mengmeng Liang, Jianhua Feng

Abstract excerpt

Epilepsy is one of the most common disorders in children, with an incidence rate of approximately 5%. Although an increasing number of genes have been demonstrated to be pathogenic factors in epilepsy, evidence for a potential pathogenic role of ATP6V1A remains limited. Herein, the clinical and genetic data of a 5-year-old boy who experienced seizures at 9 months of age are collected. Genetic variants are...

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Identifiers

PMID: 37729800
DOI: 10.1016/j.clineuro.2023.107956

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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