Association of Polymorphisms rs3812718 and rs2298771 with Epilepsy.

Epilepsy is a brain disease with both environmental and genetic inputs. Ion channel dysfunction seems to be of great significance for abnormal neuronal behavior during epileptic seizures. Within neurons, the voltage-gated sodium channels are crucial proteins contributing to the initiation and propagation of action potentials. The voltage-gated sodium channel α subunit 1 () gene encodes for the α subunit of a voltage-gated ion channel. The aim of the study was to investigate the relation of two common variants, i.e., rs3812718 and rs2298771, with distinct epileptic phenotypes in a South-Eastern European population. DNA was extracted from 214 unrelated participants with focal onset, focal to bilateral tonic-clonic, or generalized onset epileptic seizures and genotyped using real-time PCR (LightSNiP assays) followed by melting curve analysis. Statistical analysis of the results was performed using IBM SPSS Statistics software (version 29.0 for Windows). Genotype frequency distribution analysis indicated an association for the A-allele-containing genotypes of both rs3812718 and rs2298771 polymorphisms of with generalized onset seizures and focal to bilateral tonic-clonic seizures versus focal onset seizures. Consequently, the study provides evidence that supports a potential association of the investigated polymorphisms with distinct seizure subtype susceptibility in South-Eastern Europeans.