Riaz M, Abbasi MH, Sheikh N, et al. - GABRA1 and GABRA6 (two GABA receptor genes) could have critical roles in the development of epilepsy in Pakistani patients.

• A cohort of the Pakistani population, with 150 patients with idiopathic generalized epilepsy (IGE) and 150 controls, was analyzed to assess the genetic link between GABA receptor gene (an important epilepsy-linked candidate gene) polymorphisms and epilepsy.

• Five mutational sites were observed, of which two GABRA1 (rs2279020 and novel c.1016_1017insT) and two GABRA6 (rs3219151 and novel c.1344C>G) were identified to be significantly related to IGE.

• In GABRA1, c.1016_1017insT (a novel insertion mutation) led to disruption of the reading frame and was likely damaging.

• On the other hand, c.1344C>G in GABRA6 was responsible for a synonymous mutation.