SCN1A Genetic Alterations and Oxidative Stress in Idiopathic Generalized Epilepsy Patients: A Causative Analysis in Refractory Cases

Single Nucleotide Polymorphisms (SNPs) have found it be associated with drug resistance in epilepsy. The purpose of this study was to determine the role of SCN1A gene polymorphism in developing drug resistance in idiopathic generalized epilepsy (IGE) patients, along with increased oxidative stress. The study was conducted at a tertiary care hospital in Delhi, India. We recruited 100 patients diagnosed with IGE patients, grouped as drug-resistant and drug-responsive, and then further compared the SCN1A SNP rs10167228 A*/T analysis between the two groups. We utilized the PCR-RFLP technique to investigate the association between polymorphisms and refractory epilepsy. Serum HMGB1 levels were estimated using the ELISA technique to analyze oxidative stress in both groups. rs10167228 A*/T polymorphism genotypes AT and AA genotypes are significantly associated with an increased risk of developing drug resistance. Serum HMGB1, IL-1β, and IL-6 levels were significantly higher in drug-resistant cases, compared to the drug-responsive group. The association of SCN1A gene polymorphisms, in conjunction with raised oxidative stress, may be predictive of the development of drug-resistant epilepsy. The AT and AA genotypes of rs10167228 may pose a risk factor for developing drug-resistant epilepsy.