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

ABSTRACT:

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 epilepsy.

Results

Compound heterozygous ZFHX3 variants were identified in eight unrelated cases. The burden of ZFHX3 variants was significantly higher in the case cohort, shown by multiple/specific statistical analyses. In Zfh2 knockdown flies, the incidence and duration of seizure-like behaviour were significantly gre

SUBMITTER: He MF 

PROVIDER: S-EPMC11228202 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature