Abstract: Objective To investigate the relationship between the genetic polymorphisms of Kir4.1 and AQP4 and the susceptibility to temporal lobe epilepsy (TLE). Methods A real time polymerase chain reaction based on TaqMan-BHQ probes was used to identify the SNPs in the two genes in 438 TLE patients and 695 matched controls from Chinese Han origins. Results Five SNPs in Kir4.1 and seven SNPs in AQP4 were selected. There was no statistically significant difference between TLE and control groups. Haplotype analysis was also performed and no significant difference was found. Whether the single SNP was associated with TLE phenotypes including hippocampus sclerosis and febrile seizure was also investigated, but no significant association was detected. Conclusions These results suggested that polymorphisms of Kir4.1 and AQP4 might have no important roles in TLE occurrence and development.

Key words: temporal lobe epilepsy, Kir4.1, AQP4, single nucleotide polymorphism