Correlation analysis of KCNMA1 single nucleotide polymorphism with the efficacy of topiramate in the treatment of epileptic children
OBJECTIVE To explore the correlation between KCNMA1 single nucleotide polymorphism and the efficacy of topiramate in the treatment of epileptic children.METHODS From January 2017 to January 2022,a total of 746 epileptic chil-dren were recruited.According to the gene sequence of KCNMA1,they were assigned into two groups of control(n=660)and mutant(n=86).Control group was composed of KCNMA1 wild-type children while mutant group KCNMA1 mutant children.There were mutations of A138V,C495G and N599D.After topiramate dosing,the inter-group differences of alkaline phospha-tase(ALP)and blood calcium(SC)levels,efficacy and adverse reactions were examined.RESULTS The frequencies of KCNMA1 A138V,C495G,N599D and R800W were 4.96％,2.95％,1.74％and 1.88％respectively.As compared with con-trol group,effective rate of mutant group was lower(P＜0.05).As compared with control group,effective rate of C495G group was lower(P＜0.05).After topiramate dosing,ALP level was higher in mutant group than that in control group and the differ-ence was statistically significant.After topiramate dosing,no significant inter-group difference existed in SC level.After topira-mate dosing,ALP level was higher in C495G/R800W group than that in control group(P＜0.05).As compared with control group,mutation group had a higher incidence of adverse reactions and the difference was statistically significant(P＜0.05).As compared with control group,A138V and C495G groups had a higher incidence of adverse reactions(P＜0.05).CONCLUSION KCNMA1 single nucleotide polymorphism C495G and R800W are correlated with a definite efficacy of topira-mate.And A138V and C495G are correlated with the adverse reactions caused by topiramate.
NETL
NSTL
万方数据
