2026· Brazilian Journal of Pharmaceutical Sciences· 0 citations· 66 references
TL;DR
Findings support the integration of pharmacogenetic information into clinical decisionmaking to optimize ASM therapy and reduce the risk of drug resistance in epilepsy management.
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.
Overall, current evidence does not support SCN1A or ABCB1 polymorphisms as standalone predictive biomarkers for paediatric DRE, and their relevance should be interpreted cautiously and, at most, considered within broader multi-marker and clinically integrated models.
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No significant effect of CYP2C19 genetic polymorphism on ESC efficacy was observed in this study, which underscores the need for further exploration into the clinical utility of pharmacogenetics.
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