Association Between ABCB1 Gene Polymorphisms and DrugResistant Epilepsy: an Integrative Review

Abstract

ABCB1 gene polymorphisms have been associated with drug-resistant epilepsy (DRE). This integrative review evaluates the impact of key ABCB1 single nucleotide polymorphisms (SNPs)- C3435T (rs1045642), G2677T/A (rs2032582), and C1236T (rs1128503)-on the pharmacokinetics and therapeutic response to antiseizure medications (ASMs), including carbamazepine (CBZ), lamotrigine (LTG), and topiramate (TPM). Evidence suggests that these polymorphisms significantly affect CBZ and LTG efficacy by altering drug pharmacokinetics and increasing systemic exposure. In contrast, no consistent association has been observed between these variants and TPM response. These findings support the integration of pharmacogenetic information into clinical decisionmaking to optimize ASM therapy and reduce the risk of drug resistance in epilepsy management.