| Objective: To know more about genetic infantile-onset epileptic encephalopathy by summarizing their clinical features and analyze genotypes.Methods:The clinical data(including sex,age of seizure onset,predisposing factor,seizure type,perinatal and family history,diagnosis and treatment process,results of cognitive function assessment,laboratory tests,video electroencephalogram(VEEG),neuroimaging)of children with infantile-onset epileptic encephalopathy(IEE)who visited Fujian Medical University Union hospital from January 2017 to September2020.The next generation sequencing method based on trio model was used to detect the exon or epilepsy gene variants of all patients.The correlation of clinical features with the characteristic of phenotypes in the patients with IEE was analyzed.Results: A total of 31 IEE patients with pathogenic genes were collected.The age of onset was 2 hours to 12 months.19 cases(19 / 31,61.3%)developed the disease within 6 months.A total of 19 pathogenic genes were detected,and the top five were SCN1 A,PCDH19,DEPDC5,KCNQ2 and TBC1D24.Among them,13 patients(13/31,41.9%)were caused by the ion channel gene mutations.In 10 cases(10/ 31,32.3%)with fever-induced seizures,the pathogenic genes involved were SCN1 A,PCDH19,TBC1D24 or STX1 B.Of the 31 patients with IEE,16 cases were diagnosed as epileptic syndrome,and 15 cases(15/31,48.4%)were non-epileptic syndrome IEE,of which 1 case was diagnosed as Pyridoxine-dependent Epilepsy and 14 cases(14/31,45.2%)were non-epileptic syndrome IEE of unknown etiology-the types of seizures included 5 cases of generalized tonic clonic seizures(6/14,42.9%),4 cases of focal generalized seizures(4/14,28.6%).7 cases(7/14,50.0%)had clustered seizures of the14 cases,and 3 cases(3/14,21.4%)had status epilepticus.Among the 31 patients,21 cases had moderate and above mental retardation/developmental delay(MR/DD)(67.7%).There was a significant difference in the incidence of moderate and above MR/DD between epileptic syndrome and non-epileptic syndrome IEE patients,but there was no significant difference in the incidence of moderate and above MR/DD between patients with onset within 6 months and those with onset more than 6 months(78.9%VS50.0%,P>0.05).15 patients(15/31,48.4%)had abnormal neuroimaging,including widening of ventricle and extracerebral space in 10 cases(10/15,66.7%).Among the 31 patients with IEE,antiepileptic treatment was effective in 15 cases(15/31,48.4%),ineffective in 13 cases(13/31,41.9%),loss of follow-up in 2 cases(2/31,6.5%)and death with unknown etiology in 1 case(1/31,3.2%).The effective rate of antiepileptic treatment in IEE patients with epilepsy syndrome was lower than that in IEE patients with non-epileptic syndrome(25.0% vs 73.3%,P < 0.05).There was no significant difference between the effective rate of treatment between patients with onset within 6 months and those with onset more than 6 months(36.8% vs66.7%,P > 0.05).Conclusions: There are many pathogenic genes involved in genetic IEE,among which SCN1 A,DEPDC5,PCDH19,KCNQ2 and TBC1D24 are the most common.The mutation of ion-channel genes is the most common in our group.SCN1 A,PCDH19,TBC1D24 and STX1 B gene mutations can cause clinical phenotype of fever induced seizures,which should be paid more attention to.The cognitive impairment of genetic IEE children is closely associated with the gene function impaired by their pathogenic mutations.And the genetic IEE children with epileptic syndrome show more severe cognitive impairment,and the treatment of them are more difficult.The types of seizures in the genetic IEE patients with non-epileptic syndrome are generalized tonic clonic seizures or,focal generalized seizures,and half of them may present as clustered seizures.The most of abnormal neuroimaging in the genetic IEE patients is non-specific.In view of difficult clinical treatment and poor prognosis in patients with genetic IEE,early identification,diagnosis and targeted active intervention should be carried out to improve the prognosis. |
PDF Full Text Request