Authors
Mehwish Riaz, Muddasir Hassan Abbasi, Nadeem Sheikh, Tayyaba Saleem, Ahmad Omair Virk
Publication date
2021/12/1
Journal
Seizure
Volume
93
Pages
88-94
Publisher
WB Saunders
Description
The GABA receptor is an important epilepsy-associated candidate gene, and has always been a focus in etiology and in the treatment of epilepsy. This study explores the genetic association between GABA receptor gene polymorphisms and epilepsy in a cohort of the Pakistani population. A case-control study was conducted on 150 patients with idiopathic generalized epilepsy (IGE) and 150 controls. Blood samples were collected, and genomic DNA was extracted and amplified using polymerase chain reaction (PCR). The amplified products were subsequently genotyped by Sanger sequencing and the results were analyzed using the chi-square test. Among the five mutational sites observed, two GABRA1 (rs2279020 and novel c.1016_1017insT) and two GABRA6 (rs3219151 and novel c.1344C>G) were found to be significantly associated with IGE. Amino acid alignment showed that a novel insertion mutation, c …
Total citations
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