Comparative Analysis Of Clinical Menifestations And Gene Mutations Of Children With Febrile Seizure

Objective:To investigate the clinical phenotypic characteristics of children with febrile convulsion,and to carry out epileptic correlation gene detection,to find pathogenicity mutations,and to analyze the clinical phenotypic characteristics of related gene mutations.Methods : Collected between January 2014 and December 2014 shengjing hospital affiliated to China medical university and pediatric neurology clinic wards the clinical data of 50 cases hot seizures were detailed,all the children and their parents to collect peripheral blood,application of disease gene targeting the second generation sequencing technology epilepsy gene sequencing analysis,looking for suspicious pathogenic mutations,proven mutations in Sanger sequencing validation and clearly mutation source of parents,followed up for 3 months to 4 years,gene and the clinical data and the results were analyzed.Results:1.This group of 50 cases of hot sex children with convulsions,male children,men and women ratio of 3:1,50% of hot sex into epilepsy children convulsion,simple sexual convulsions,complexity,hot sex convulsion children accounted for a third of the children with epilepsy,1/2.The age of onset and the age of onset of epilepsy were the earliest,with an average age of 6 months and 6 months,respectively.In the whole group,the children were underdeveloped in neural motor,language and intelligence.Children with positive family history of thermal convulsion and epilepsy accounted for 40 per cent of the group,20 per cent of the complex thermal convulsion group,and 80 per cent of the thermal convulsion sustained state group.In this group,patients with febrile convulsion seizures generally have a full-blown seizure,and seizures can be a variety of types of seizures.2.19 cases of simple hot convulsions genetic testing in children with positive results in 7cases(37%),26 cases of complexity is hot convulsions with five cases were positive for genetic testing results(19%),5 cases of eclampsia state were genetic testing results have 3cases(60%)were positive.There were SCN1 A mutations in the gene detection results of4 children: 1 case was missense mutation;1 case was a mutation of frameshift;One case was SCN1 A and SCN2 A gene mutation,all of which were mutations near the shear site.1case was SCN1 A with PRRT2 gene mutation.There were SCN9 A mutations in the genetic test results of 3 children.1 case was missense mutation;1 case was the shear site mutation;1 case of SCN9 A combined with SCN1 B gene mutation.The gene detection results of 2 children showed PCDH19 gene mutation,all of which were missense mutations.In 1 case,PRRT2 gene mutation was present,which was missense mutation.The genetic test results of 3 children showed GPR98 gene mutation: 2 cases were missense mutations.1 case of STX1 B and GPR98 gene mutation were all missense mutations.In 2 cases,the genetic test results showed that KCNQ2 gene mutation was a missense mutation.3.There were 3 cases of abnormal electroencephalogram in 50 children with febrile convulsion.There were 24 cases of abnormal eeg in 24 patients with epilepsy.In 15 cases with positive gene mutation,the head MRI was improved within 1 week after the onset of febrile convulsion,and 3 cases were abnormal,including 2 cases of demyelinating lesions.1 case of mild hydrocephalus.Were converted into the first abnormal results without febrile convulsion perfect head MRI in 6 cases,one on the right side of choroid fissure cysts,the right ventricle temporal Angle small cyst,mild hydrocephalus,thin corpus callosum,an abnormal signal,temporal Angle the hippocampus in 1 case.In the 35 cases with negative genetic test,the head MRI was completed within one week of the onset of febrile convulsion,and there were 6 abnormal results,including 2 cases of corpus callosum development.Demyelinating lesions and 1 case of left maxillary sinus small cyst.There were 8 cases of perfect head MRI in the first non-thermal convulsion,including 4 cases of corpus callosum.There were two cases of abnormal temporal horn.One case of abnormal hippocampal signal and arachnoid cyst.Conclusions:1.It is highly likely that the children who have the first episode of febrile convulsion sustained state and have a positive family history of febrile convulsion or epileptic family history will be transformed into epilepsy,and it is suggested to improve the genetic testing as soon as possible.2.Children with simple febrile convulsion,if the onset is frequent,and/or the family history of febrile convulsion is also recommended to improve the genetic testing,which may have a certain effect on prognosis.3.SCN1 A,SCN2A,SCN9 A,PRRT2,STX1 B,PCDH19,KCNQ2,and GPR98 genes were associated with febrile convulsion,but whether or not eclampsia was required for long-term follow-up.