{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["He MF"],"funding":["Scientific Research Project of Guangzhou Education Bureau","National Natural Science Foundation of China","Multicenter Clinical Research Fund Project of the Second Affiliated Hospital of Guangzhou Medical University","Science and Technology Project of Guangzhou"],"pagination":["652-660"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11228202"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["61(7)"],"pubmed_abstract":["<h4>Background</h4>The <i>ZFHX3</i> gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation and neuronal death. This study aims to explore the relationship between <i>ZFHX3</i> variants and epilepsy.<h4>Methods</h4>Whole-exome sequencing was performed in a cohort of 378 patients with partial (focal) epilepsy. A <i>Drosophila Zfh2</i> knockdown model was used to validate the association between <i>ZFHX3</i> and epilepsy.<h4>Results</h4>Compound heterozygous <i>ZFHX3</i> variants were identified in eight unrelated cases. The burden of <i>ZFHX3</i> variants was significantly higher in the case cohort, shown by multiple/specific statistical analyses. In <i>Zfh2</i> knockdown flies, the incidence and duration of seizure-like behaviour were significantly gre"],"journal":["Journal of medical genetics"],"pubmed_title":["<i>ZFHX3</i> variants cause childhood partial epilepsy and infantile spasms with favourable outcomes."],"pmcid":["PMC11228202"],"funding_grant_id":["82271505","81870903","81971216","202235395","202201020106","010G271099","2021-LCYJ-DZX-02","2020-LCYJ-DZX-03"],"pubmed_authors":["Zou DF","Zhou P","Wang PY","Liu LH","He N","Yi YH","Wang J","Liu XR","Li BM","Guo JJ","Ma HY","He MF","He SL","Qiao JD","Luo S","Zhai QX","Liao WP"],"additional_accession":[]},"is_claimable":false,"name":"<i>ZFHX3</i> variants cause childhood partial epilepsy and infantile spasms with favourable outcomes.","description":"<h4>Background</h4>The <i>ZFHX3</i> gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation and neuronal death. This study aims to explore the relationship between <i>ZFHX3</i> variants and epilepsy.<h4>Methods</h4>Whole-exome sequencing was performed in a cohort of 378 patients with partial (focal) epilepsy. A <i>Drosophila Zfh2</i> knockdown model was used to validate the association between <i>ZFHX3</i> and epilepsy.<h4>Results</h4>Compound heterozygous <i>ZFHX3</i> variants were identified in eight unrelated cases. The burden of <i>ZFHX3</i> variants was significantly higher in the case cohort, shown by multiple/specific statistical analyses. In <i>Zfh2</i> knockdown flies, the incidence and duration of seizure-like behaviour were significantly gre","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jun","modification":"2026-06-07T07:48:18.111Z","creation":"2026-06-07T03:11:52.325Z"},"accession":"S-EPMC11228202","cross_references":{"pubmed":["38508705"],"doi":["10.1136/jmg-2023-109725"]}}