Retrospective Analysis Of Clinical Characteristics And Gene Mutation In 42 Children With Epileptic Encephalopathy

Objective:We summarized the clinical characteristics of epileptic encephalopathy in children,and analyzed the clinical phenotype characteristics of related gene mutations,so as to improve the understanding of epileptic encephalopathyMethod:We collected the clinical data of 42 children with epileptic encephalopathy diagnosed in our hospital from January 2017 to June 2017.The clinical characteristics and related gene mutation were analyzed retrospectively.The antiepileptic drugs and the curative effect were followed up.Results:1.Among the 42 children with epileptic encephalopathy,The male children is the majority,with the male to female ratio of 1:0.83.The median onset age was 4 month old,and the peak onset age was within 1 years(76.00%).2.Among the 42 children with epileptic encephalopathy,16(38.00%)were diagnosed with infantile spasms,1(2.50%)with ohtahara syndrome,1(2.50%)with Dravet syndrome,24(57.00%)with nonspecific epileptic encephalopathy.infantile spasms and the nonspecific epileptic encephalopathy are the majority(95.00%).3.Among the 42 children with epileptic encephalopathy,the form of seizures and the background activity of electroencephalogram of known epilepsy syndrome(including infantile spasms,ohtahara syndrome)were typical.However,24 cases of nonspecific epilepsy encephalopathy had various forms,and the most common form was tonic seizures(58.00%).The background activity of electroencephalogram(EEG)has 3 background patterns:normal background activity,hypsarrhythmia and background activity with slow wave abnormalities,which was the maj ority(58,00%).4.Among the 42 children with epileptic encephalopathy,19 cases(45.20%)had normal head MRI examination,6 cases(14.00%)had family history,and 8 cases(19.00%)had status epilepticus.5.Among the 42 children with epileptic encephalopathy,11(26.20%)were positive for gene,5(11.90%)with hypoxic-ischemic encephalopathy,3(7.10%)with congenital hypoplasia of the brain,1(2.40%)with chromosome abnormalities,1(2.40%)with intracranial hemorrhage,and 21(50.00%)with unknown pathogeny.6.Among the 42 children with epileptic encephalopathy,2 or more antiepileptic drugs were treated in 34 cases(81.00%),epileptic control in 5 cases(5/42=12.00%),and the 5 cases are infantile spasms,of which 2 had history of ACTH treatment,2 with ketogenic treatment,and adding ACTH or ketone could increase the rate of infantile spasms control.The treatment was not effective in 13 cases(13/42=31.00%).7.Among the 42 children with epileptic encephalopathy,11 were positive for gene with 7(73.00%)positive for the onset age of 0-3 months.Among them,NLGN4X gene,SCN2A gene,STXBP1 gene mutation can cause infantile spasms,SCN1A gene mutation causes Dravet syndrome,STXBP1 gene,SCN8A gene,KCNQ2 gene,and IQSEC2 gene mutation cause nonspecific epilepsy Encephalopathy.Mutations in the STXBP1 gene can cause infantile spasms and nonspecific epilepsy encephalopathy.The higher the chimerism of the same gene mutation is,the more serious the clinical manifestation is.Even with the same mutation among siblings,the clinical manifestations are different.Conclusion:1.children with epileptic encephalopathy were early onset.The infantile spasms and the nonspecific epileptic encephalopathy are the majority,with various causes of epilepsy,forms of seizures and background activities of electroencephalogram,most of the head MRI examination was normal,the incidence of status epilepticus was high,and 2 or more antiepileptic drugs were combined,and the rate of treatment had no effective was high.2.different gene mutations can cause the same clinical epilepsy syndrome.The same gene mutation can cause different clinical manifestations.The higher the chimerism of the same gene mutation is,the more serious the clinical manifestation is.Even with the same mutation among siblings,the clinical manifestations are different.