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Article

Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.

Clinical genetics - 1 Dec 2024

Sheng Wenchao, Wang Ping, Cai Yingzi, Zhai Chaojun, Wang Hong, Zhou Feiyu, Liu Xiaoyu, Wang Leyi, Li Dong, Shu Jianbo, Cai Chunquan

Abstract excerpt

ATP6V1B2 encodes the subunit of the vacuolar H+-ATPase, which is an enzyme responsible for the acidification of intracellular organelles and essential for cell signaling and neurotransmitter release. The aim of the study is to identify the correlation between ATP6V1B2 and epilepsy. Trio-exome sequencing was performed. Reverse Transcription-PCR and Quantitative real-time PCR analyses were carried out to determine...

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Identifiers

PMID: 39075926
DOI: 10.1111/cge.14600

Genes

ATP6V1B2

Variants

Provenance

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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