Clinical Retrospective Analysis Of 19 Children With SCN1A Gene-related Epilepsy

Objective: Study the clinical characteristics,AEDs and gene results of patients with SCN1 A gene-related epilepsy,and provide references for early clinical identification and avoid improper drug selection.Methods: Clinical data,auxiliary examinations,gene results and treatment with antiepileptic drugs(AEDs)of 19 patients with SCN1 A mutation admitted to children's hospital of chongqing medical university in recent 3 years were retrospectively analyzed.Results:(1)A total of 19 children were enrolled,with an average age of 2.9 years old(1.1~8 years old),and a median age of 6 months(1~8months).(2)Seizure types: initial epileptic attacks mainly tonic/clonic seizures,then,more seizure type was seen,19(100%)were focal to bilateral tonic-clonic seizures,3(16%)were Spasmodic seizures,3(16%)were atypical absence seizures,1(5%)was myoclonic seizures,9(47%)were status epilepticus.(3)Thermal sensitivity:13(68%)seizures with fever,and 17(89%)follow-up patients seizures with fever.(4)Intellectualmotor development impairment after onset: after the average onset of 5months,17(89%)of the children showed delayed or retrograde language motor development,3(16%)withmotor ataxia,and 3(16%)with suspicious motor ataxia.(5)Family history of FS or epilepsy: 37%(7/19).(6)Electroencephalogram(EEG):multifocal Spine-slow wave or sharp slow wave was the main one,and the abnormal rate gradually increased with age.(7)Head MRI: no specific manifestations.(8)Gene report: all the 14 cases were heterozygous mutations and spontaneous mutations,8(57%)were missense mutations,2(14%)were nonsense mutations and 2(14%)were frameshift mutations.(9)Drug resistance: single drug treatment is difficult,and none of them had reached no epileptic seizure at present.(10)Sodium channel blockers: 8(42%)of the patients had used sodium channel blockers,4 had increased seizures,2 had no decrease in seizures,and 2were discontinued in time due to SCN1 A mutation.Conclusion: In this group,the onset age of SCN1 A gene-related epilepsy children was early,and there was no significant difference between males and females.Thermal sensitivity of SCN1 A gene-related epilepsy is outstanding,clinical seizure type is varied,status epilepticus is common,clinical epileptic fit type is varied,epileptic last state is common,development before disease is normal,can accompany ataxia,a large number of myoclonus and positive pyramidal tract sign.The gene mutation is mostly associated with severe epilepsy phenotype,and there is acorrelation between the genotype and phenotype.The newly mutated phenotype is more serious than the family inherited mutation.The overall efficacy of drugs and ketogenic diet in the treatment of children in this group was poor.Sodium channel blockers may be ineffective or aggravating in controlling seizures.Early identification of the characteristics of SCN1 A gene-related epilepsy and early genetic diagnosis are of great significance for avoiding the aggravation of the disease due to improper drug selection.At the same time,non-epileptic symptoms such as intellectual motor development,behavioral disorders and mental health should also be concerned.