Comparison Of The Efficacy Of Levetiracetam With Sodium Valproate On The Treatment Of Juvenile Myoclonic Epilepsy And The Analysis Of Genotype And Phenotype

Objective:(1)Levetiracetam and Sodium Valproate are usually used for the treatment of Juvenile Myoclonic Epilepsy,but we do not know the comparison of the efficacy of the two drugs now.We aimed to compare the efficacy of Levetiracetam with Sodium Valproate on the treatment of Juvenile Myoclonic Epilepsy.(2)Juvenile Myoclonic Epilepsy is closely ralated to geneic factors.There is a strong heterogeneity of genotype and clinical phenotype in patients.We also analyzed the relationship between genotype and clinical phenotype.Methods:(1)60 cases of Juvenile Myoclonic Epilepsy patients were selected and were divided into two groups.There are 30 patients in each group and were treated with Levetiracitam or Sodium Valproate.We compared the two groups with improvement of myoclonic seizures,generalized tonic-clonic seizures and electroencephalogram to determine the effect of levetiracitam and valproate in the treatment of Juvenile Myoclonic Epilepsy.(2)In this study,21 of the 60 patients who agreed to the gene sequencing and signed informed consent were tested for next-generation gene sequencing,then we verified the parental origin using the Sanger sequencing.Wescreened the pathogenic genes and analyzed the relationship between genotype and clinical phenotype.Results:(1)The comparison of the efficacy of two drugs:1)The improvement of myoclonic seizures:The total effective rate of Levetiracitam group was 79.31%,and the valproate group is 85.71%,and the difference was not statiscally significant(?~2=0.404,P>0.05);2)The improvement of generalized tonic-clonic seizures:The total effective rate of Levetiracitam group was 89.63%,and the valproate group is 82.14%,and the difference was not statiscally significant(?~2=0.666,P>0.05);3)The improvement of electroencephalogram:The total effective rate of Levetiracitam group was 72.41%,and the valproate group is 75.00%,and the difference was not statiscally significant(?~2=0.049,P>0.05);4)Adverse reaction:the rate of adverse reaction in the Levetaracitam group is 13.79%,and the Valproate group is 32.29%,and the difference was statistically significant(?~2=6.02,P<0.05).(2)The result of gene sequencing and the relationship between genotype and clinical phenotype:A total of 11 gene mutations were detected,all of which were missence mutations.1)3 CLCN2 mutations were found in 3 patients(c.2593A>C?c.2386C>T?c.1834G>A).c.1834G>A mutation was a new discovered mutation,and all three patients with this mutation have the GTCS.The patient with the mutation of c.2593A>C has absence seizures and valproate was proven to be not effective;2)Two EFHC1mutations(c.43A>G,c.826C>T)were detected in two patients.These two patients all have the GTCS and they all have good efficacy with drug therapy;3)Two GABRA1 mutation(c.789G>A?c.884C>T)were detected in two patients.The seizures in the patient with the mutationofc.884C>Thasphotosensitivity;4)TwoCASR2mutation(c.649G>T,c.1837G>A)weredetectedintwopatients,;5)AGRIN2mutation(c.2636A>G)were detected in one patient;6)A SCN2A mutation(c.11267G>C)were detected in one patient.Conclusion:(1)According to the results,Levetiracitam is an appropriate drug for treatment of Juvenile Myoclonic Epilepsy with fewer adverse effects,whose efficacy was similar with Sodium Valproate.So Levetiracitam can be the first line treatment for Juvenile Myoclonic Epilepsy.(2)The most common mutation is the CLCN2 in the Juvenile Myoclonic Epilepsy,and is followed with EFHC1?GABRA1?CASR2 and so on.