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Article

ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes.

Journal of medical genetics - 20 Jun 2024

He Ming-Feng, Liu Li-Hong, Luo Sheng, Wang Juan, Guo Jia-Jun, Wang Peng-Yu, Zhai Qiong-Xiang, He Su-Li, Zou Dong-Fang, Liu Xiao-Rong, Li Bing-Mei, Ma Hai-Yan, Qiao Jing-Da, Zhou Peng, He Na, Yi Yong-Hong, Liao Wei-Ping

Abstract excerpt

BACKGROUND: The ZFHX3 gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation and neuronal death. This study aims to explore the relationship between ZFHX3 variants and epilepsy. METHODS: Whole-exome sequencing was performed in a cohort of 378 patients with partial (focal) epilepsy. A Drosophila Zfh2 knockdown model was used to validate the association between ZFHX3 and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38508705
DOI: 10.1136/jmg-2023-109725
PMCID: PMC11228202

Genes

ZFHX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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