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Article

ATP6V1A variants are associated with childhood epilepsy with favorable outcome.

Seizure - 1 Mar 2024

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

Abstract excerpt

PURPOSE: ATP6V1A variants have been identified in patients with highly variable phenotypes such as autosomal dominant epileptic encephalopathy and autosomal recessive cutis laxa. However, the mechanism underlying phenotype variation is unknown. We screened ATP6V1A variants in patients with epilepsy and analyzed the genotype-phenotype correlation to explain the mechanism underlying phenotypic variations. METHODS:...

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Identifiers

PMID: 37574426
DOI: 10.1016/j.seizure.2023.08.004

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