<i>TMEM14A</i> Gene Affects Hippocampal Sclerosis in Mesial Temporal Lobe Epilepsy.

ABSTRACT: Background: Hippocampal sclerosis (HS) is a hallmark of mesial temporal lobe epilepsy (MTLE). However, genetic studies on MTLE patients with HS (MTLE-HS) remain limited, especially in East Asian populations. This study aimed to identify genetic variants associated with MTLE-HS and elucidate their biological relevance through integrative genomic and transcriptomic analyses. Methods: We conducted a genome-wide association study (GWAS) on 157 Korean epilepsy patients, including 52 MTLE-HS subjects and 105 non-acquired focal epilepsy individuals without HS as controls. The splicing and expression quantitative trait locus (sQTL and eQTL, respectively) effects of significant variants were analyzed using GTEx datasets. Transcriptomic data from the hippocampi of MTLE-HS subjects and

SUBMITTER: Kim J 

PROVIDER: S-EPMC12156207 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature