SCN1A and ABCB1 Polymorphisms in Epilepsy

Genetic variability in drug metabolism affects its treatment with anti epilepsy drugs (AEDs). Allelic variations in genes include SCN1A and ABCB1. Encoding the AEDs’ target and drug transport proteins may affect the efficacy and tolerability of antiepileptic drugs. A study was designed to evaluate the frequency of the ABCB1- and the SCN1A-selected SNPs in the genotype and haplotype combination within the Iranian population who were affected by idiopathic refractory epilepsy (IRE). About 81 healthy normal samples and 34 probands, clinically diagnosed as one type of IRE, were selected. The genotype of the two SNPs in the SCN1A gene (rs2298771, rs7601520) and one SNP in ABCB1 (rs1045642) were determined in two groups by ARMS-PCR and PCR-RFLP, and confirmed by direct sequencing. The data analysis shows no statistically significant differences, and thus, the predicted haplotype frequencies (including the three SNPs) did not show any significant differences between the patients and the control groups.