Genetic Etiologies of an Epilepsy Outpatient Clinic: Single-center Experience

Abstract

Objective: We aim to documented genetic etiology of epilepsy at a single-center epilepsy outpatient clinic in state hospital. Methods: The patients’ demographic data, clinical and electrophysiologic features, and gene analysis were re-evaluated from medical records of patients with epilepsies between August 2021 and January 2024. The detected variants were searched in gnomAD, ClinVar, DECIPHER, and PubMed databases. The common and distinct features of the phenotype of patients were compared with the literature. Results: The medical records of 354 patients with epilepsy were reviewed. Forty (11.2%) patients were diagnosed with genetic generalized epilepsy. Among them, 37 patients (10.4%) were diagnosed with idiopathic generalized epilepsy, and 3 patients (0.8%) were diagnosed with epilepsy with eyelid myoclonia. We included patients with epilepsy and confirmed genetic etiology at diagnosis. Nine (2.5%) patients with epilepsy and confirmed genetic etiology were included; seven (1.9%) patients had rare monogenic variants in (ZNF142, ZMYND11, DLG4, PEX11B, SCARB2 and GRM-1) genes and two (0.5%) had chromosomal abnormalities (1p36 deletion and 15q15.1 deletion). Conclusion: This study reported genetic etiologies of epilepsy were determined in single-center state hospital. The reported families demonstrate that similar genotypic variations can lead to different phenotypic outcomes. Indeed, similar phenotypic features may result from two distinct genotypic alterations. Specifying the variants and their phenotypic features with diagnostic tools in every single-center are important starting to investigate across the country.