Carbamazepine Resistance in Epileptic Patients & Its Association with Genetic Polymorphism

Abstract

Epilepsy is a brain disorder with a lasting tendency to produce epileptic episodes. It carries neurological, cognitive, psychological, and social consequences. Carbamazepine (CBZ) is one of the most widely prescribed antiepileptic drugs. It is first-line therapy to treat partial tonic-clonic seizures, trigeminal, glossopharyngeal neuralgias, and bipolar disorder. The main goal of epilepsy treatment is to avoid seizures without detrimental side effects. Unfortunately, despite appropriate and adequate medication, one-third of the patients do not respond to antiepileptic drugs. Individuals with drug-resistant epilepsy have a higher risk of neurological damage, psychiatric dysfunction, lower quality of life, and even death. For a long time, genetic factors have been known to play a role in the pathophysiology of epilepsy. In parallel, pharmacogenetic factors are also hypothesized to induce drug-resistant epilepsy, with gene polymorphism being one of the most investigated. This review is a collection of studies aimed at investigating resistance to CBZ in epilepsy patients influenced by the polymorphism of genes encoding metabolic enzymes and drug transporters. Pharmacogenetic intervention is likely to improve treatment strategies and pave the way toward personalized medicine for epileptic patients.