Clinical Analysis And Curative Effect Of Gene Mutation In Frontal Lobe Epilepsy Of Children

Objective: 1.To describe the clinical phenotype of gene mutation in the frontal lobe epilepsy(FLE)of children.2.To observe the curative effect of antiepileptic drugs in children with FLE gene mutation.3.To analysis the prognosis of children with FLE gene mutation.Methods:Participants: the patients were diagnosed as FLE with gene mutation in the Department of Neurology of children's Hospital Affiliated to Chongqing Medical Univrsity from December 2014 to December 2017.Clinical data: including gender,age of onset,clinical manifestations,video electroencephalogram(VEEG),magnetic resonance imaging(MRI),gene,family history,production history,antiepileptic drug(AEDs).Follow-up: the cases of seizures,medication,concentration of blood and EEG were followed up by telephone or neurology clinic.Statistical methods: statistical analysis was performed by SPSS 22.0 statistical software and Graghpad Prism 6.0 software.Data were processed by one-way ANOVA and chi-square test.P<0.05 showed statistical difference.Results:Among the 29 children with gene mutations in FLE,there were 9 cases of CHRNA2,CHRNA4,CHRNA7 and CHRNB2 gene mutations(CHRN gene),8 cases of DEPDC5 gene mutation and 12 cases of KCNT1 gene mutation.There were 21 cases of male and 8 cases of female,and the morbidity of male was more than female.The age of onset was from 2 month old to 10 years old,with the median age of 25 month.There were 17 cases with comprehensive seizures,12 cases with focal seizures or secondary comprehensive seizures.Most of the seizures were related to sleep,and 22 cases of EEG were detected in the frontal area.12 cases had a history of convulsion family,and 10 cases were associated with development retardation.In the selection of AEDs,18 cases need one AEDs for treatment,including 8 cases of VPA,6 cases of LEV,and 4 cases of OXC.5 cases need two drugs,4 cases need three drugs.OXC and VPA are the most common choice of combined drugs.The efficacy of single drug controlled was significantly better than that of three drugs.5 cases used VPA in the CHRN mutation gene,the effective rate was 60%.4 cases used OXC and 4 cases used LEV in the DEPDC5 mutation gene,the effective rate was 75%.the choice of AEDs in KCNT1 gene was complex and the curative effect was poor.During follow-up,children with serum AEDs concentration was in the normal range,18 cases of follow-up EEG epileptic were still abnormal,3 cases in the CHRN gene mutation,5 cases in the DEPDC5 gene mutation and 10 cases in the KCNT1 gene mutation.Conclusions: This study summarizes clinical manifestations,AEDs and prognosis of the gene mutation in children with FLE.The mutation genes in children with FLE were mainly on CHRN gene,DEPDC5 gene and KCNT1 gene.selection of AEDs should depend on clinical manifestations,ictal EEG and gene.The prognosis of children with single AEDs is better than those with two or more AEDs.The prognosis of patients with CHRN gene mutation is equal to that of DEPDC5,and the prognosis of children with KCNT1 gene mutation is poor.the prognosis of children with CHRN gene mutations is better than KCNT1 gene mutation.