Abstract
This study aims to investigate the effects of the three potassium channel genes KCNA1, KCNA2, and KCNV2 on increased susceptibility to epilepsy as well as on responsiveness to antiepileptic drugs (AEDs). The pharmacogenetic and case-control cohort (n = 595) consisted of 296 epileptic patients and 299 healthy individuals. Epileptic patients were recruited from the Pediatric Neurology clinic at the Queen Rania Al Abdullah Hospital (QRAH) in Amman, Jordan. A custom platform array search for genetic association in Jordanian-Arab epileptic patients was undertaken. The MassARRAY system (iPLEX GOLD) was used to genotype seven single nucleotide polymorphisms (SNPs) within three candidate genes (KCNA1, KCNA2, and KCNV2). Only one SNP in KCNA2, rs3887820, showed significant association with increased risk of susceptibility to generalized myoclonic seizure (p-value < 0.001). Notably, the rs112561866 polymorphism of the KCNA1 gene was non-polymorphic, but no significant association was found between the KCNA1 (rs2227910, rs112561866, and rs7974459) and KCNV2 (rs7029012, rs10967705, and rs10967728) polymorphisms and disease susceptibility or drug responsiveness among Jordanian patients. This study suggests that a significant association exists between the KCNA2 SNP rs3887820 and increased susceptibility to generalized myoclonic seizure. However, the present findings indicate that the KCNA1 and KCNV2 SNPs do not influence disease susceptibility and drug responsiveness in epileptic patients. Pharmacogenetic and case-control studies involving a multicenter and multiethnic approach are needed to confirm our results. To improve the efficacy and safety of epilepsy treatment, further studies are required to identify other genetic factors that contribute to susceptibility and treatment outcome.
Highlights
Epilepsy is a neurological disorder that affects people of all ages and is a considerable cause of morbidity and mortality [1]
Epileptic seizures can be classified into generalized epileptic seizures (GE), which are characterized by discharges arising simultaneously from both cerebral hemispheres, and partial epileptic seizures (PE), in which the discharges arise from focal cortical disturbances
After analyzing the frequencies of Kv-related gene haplotypes in the poor and good responders, we found that a KCNA1 and KCNV2 haplotype did not show a significant association with epilepsy responsiveness (Table S7)
Summary
Epilepsy is a neurological disorder that affects people of all ages and is a considerable cause of morbidity and mortality [1]. Characterized by abnormal central nervous system electrical activity and recurrent seizures, epilepsy is one of the most commonly reported neurological conditions [2]. Epileptic seizures can be classified into generalized epileptic seizures (GE), which are characterized by discharges arising simultaneously from both cerebral hemispheres, and partial epileptic seizures (PE), in which the discharges arise from focal cortical disturbances.
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