Mutational screening of GABRG2 gene in Pakistani population of Punjab with generalized tonic clonic seizures and children with childhood absence epilepsy

Abstract

Background: Epilepsy is a multifaceted and multistep disorder that disrupts the proper functioning of neurons. It is becoming increasingly clear that the responsiveness of neurons depends on the appropriate trafficking of ions across the channels in the membrane of neurons. In line with this notion, impairment among these ion channels due to mutations has gain increasing attention in molecular neuroscience.

Methods: Mutation analysis of the coding exons (exon 3, 5 and 9) was performed by sequencing GABRG2 to identify any complex biological entities among two different types of epilepsies.

Results: Sequencing of the candidate gene "GABRG2" revealed a single polymorphic site in exon 3 in the children with absence epilepsy and generalized tonic clonic seizures. However, this single nucleotide alteration was more common in the patients with childhood absence epilepsy patients compared to the generalized cases.

Conclusion: A silent mutation was identified at locus 27,909 C > T in 30.66% of the total screened or analyzed cases. However, no single nucleotide polymorphism was identified in exon 5 of GABRG2 in a Pakistani population, in contrast to a study of Chinese patients with childhood absence epilepsy.

Keywords: Childhood absence epilepsy (CAE); GABA receptor; GABRG2 gene; Generalized tonic clonic seizures (GTCS).