Pharmacogenetics of antiepileptic drugs: A brief review

Abstract

The goal of pharmacogenetic research is to assist clinicians in predicting patient response to medications when genetic variations are identified. The pharmacogenetic variation of antiepileptic drug response and side effects has yielded findings that have been included in drug labeling and guidelines. The goal of this review is to provide a brief overview of the pharmacogenetic research on antiepileptic drugs. It will focus on findings that have been included in drug labeling, guidelines, and candidate pharmacogenetic variation. Overall, several genes have been included in guidelines by national and international organizations; however, much work is needed to implement and evaluate their use in clinical settings.

The potential implication of SCN1A and CYP3A5 genetic variants on antiepileptic drug resistance among Egyptian epileptic children

“…The drug targets for several AEDs are voltage gated sodium channels [7] in which several susceptible polymorphic loci are linked to some epileptic disorders [35][36][37][38][39][40][41][42][43][44][45]. The results of this study confirmed the existence of a significant association of AG genotype and G allele of SCN1A c.3184 polymorphism with epilepsy and pharmacoresistant epilepsy.…”

“…SCN1A gene encodes the alpha subunit of voltage gated sodium channel type 1 that initiates firing of brain neurons [5,6]. These ion channels are molecular targets for many AEDs [7] which block ionic conductance through these channels [4,8]. The architecture of these channels reveals a large pore-forming a subunit associated with two smaller b subunits [5,9] and evidence suggests that the channel blocking AEDs do so mainly by binding a subunit [8].…”

SCN1A polymorphisms influence the antiepileptic drugs responsiveness in Jordanian epileptic patients

“…In the state of response to membrane depolarization, channels activate within a few hundred microseconds, resulting in flux of sodium through the open channel pore, and then convert to non-conducting inactivated states within a few milliseconds [7] . These ion channels are molecular targets for many AEDs [8] , which block ionic conductance through these channels [9] [10] . The SCB-AEDs have been a cornerstone in treating focal and generalized tonic-clonic seizures for more than 70 years.…”

The possible effect of SCN1A and SCN2A genetic variants on carbamazepine response among Khyber Pakhtunkhwa epileptic patients, Pakistan

“… 9 SCN1A gene expresses the α subunit of voltage-gated sodium channel type 1 that is responsible for firing of neurons in the brain. 10 , 11 These ion channels are molecular targets for many AEDs, 12 which block ionic exchange through the respective channels. 6 , 13 Sodium channels have a large pore-forming α subunit associated with two smaller β subunits.…”