Research Article GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort Tayyaba Saleem , 1 Hafsa Maqbool , 1 Nadeem Sheikh , 1 Asima Tayyeb , 2 Maryam Mukhtar , 1 and Aqsa Ashfaq 1 1 Cell and Molecular Biology Laboratory, Institute of Zoology, University of the Punjab, Lahore, Pakistan 2 School of Biological Sciences, University of the Punjab, Lahore, Pakistan Correspondence should be addressed to Nadeem Sheikh; s_nadeem77@yahoo.com Received 9 April 2022; Revised 19 October 2022; Accepted 29 October 2022; Published 15 November 2022 Academic Editor: Mejdi Snoussi Copyright © 2022 Tayyaba Saleem et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Idiopathic generalized epilepsy (IGE) is the most prevalent type of epilepsy with genetic origin. Mutations in ion channel genes have been identified as a common cause of IGE. Several studies have reported various epilepsy risk variants of GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2 subunit) gene in different ethnic groups, but the results are inconsistent. The purpose of this case-control research is to determine if GABRG2 polymorphisms contribute to IGE susceptibility and antiepileptic drug resistance in Pakistani population. For this purpose, we genotyped exon2, exon5 (C540T and C588T), exon7 (T813C), exon8 (K289M), and exon9 of GABRG2 gene by restriction fragment length polymorphism and Sanger’s sequencing in 87 drug-responsive idiopathic generalized epilepsy patients, 55 drug-resistant epilepsy patients, and 83 healthy controls. Restriction fragment length polymorphism (RFLP) and sequencing results indicated only C588T polymorphism in the studied subjects. The comparison of genotypic and allelic frequencies showed significant differences between IGE patients and control groups (P =0:008 and odds ratio = 4:2) and nonsignificant association of C588T polymorphism in antiseizure medication-resistant patients (P =0:9). Our findings showed that C588T polymorphism of GABRG2 is a risk variant for IGE in Pakistani population. Further studies are required to validate the results. 1. Introduction Epilepsy is a clinically and genetically heterogeneous group of conditions marked by episode of prolonged synchronized neuronal activity [1]. It is a prevalent disorder with a global incident rate of 7 per 1000 individuals [2]. The interplay of genetic and environmental factors causes the majority of epilepsy manifestations [3]. Idiopathic generalized epilepsy is the most common category of epilepsy with nonfocal mechanism of onset and no external cause or no cause beyond genetic predisposition according to the current defi- nition [4]. Patient experiences seizures that entail both hemispheres of the brain. Although lGEs have a high inci- dence rate, they are still underdiagnosed. IGE accounts for 30 percent of all epilepsies, and around 0.3% of the general population is affected by it [5]. Idiopathic generalized epilep- sies are considered polygenic based on high concordance between monozygotic twins and decelerating risk beyond first-degree relatives [6–8]. Seizures, epileptogenesis, and epilepsy are all influenced by genes and their variants on numerous levels. Voltage- gated and ligand-gated are key ion channel genes that have been linked to distinct epilepsy phenotypes [9]. Among ligand-gated channel genes, the genes encoding gamma- Hindawi BioMed Research International Volume 2022, Article ID 3460792, 8 pages https://doi.org/10.1155/2022/3460792