| Research BackgroundEpilepsy is a chronic disease caused by a variety of factors,which can be characterized by recurrent,episodic and transient central nervous system dysfunction caused by abnorma discharge of brain neurons,and it is one of the most common disease in the Department of Neurology[1].According to epidemiological study,the annual incidence of epilepsy is（30～70）/100000[2].Henan Province is one of the most populous provinces in China,the annual incidence of epilepsy is 32.1/100000[3].Previous studies have shown that the most patients originate in childhood,and epileptic seizure causes great physical and psychological pain to children,and also has brought serious negative inpact on family and society[4,5].Currently,there are many treatment methods,including drug treatment,ketogenic diet、surgical treatment,etc[6].Although there are more than 20 different types of antiepileptic drugs,20%～30%of patients with pharmacoresistant epilepsy[7].Seizures can be genetic,structure,infection,immunity,metabolism and other factors[8].Hereditary factors play a dominant role in the etiology of epilepsy.Hereditary factors were deemed to be the underlying cause accounts for 70%to 80%of epilepsy,and more than 700 specific genes had been identified to be associated with epilepsy[9].On the other hand,Epilepsy caused by adverse genetic variant has different drug reactions,if the drug is not used properly,including aggravating epileptic seizures or triggering new types of seizures[10].In recent years,with the rapid development genetics,more and more new epileptic-related genes are being detected in people with epilepsy,and some gene models for functional study in vivo and in vitro had successfully constructed,laying a molecular foundation for the pathogenesis of epilepsy and the research of new drugs[11-12].Therefore,it is urgent to find out the aetiology of epilepsy and find more effective tolerable drugs.Therefore,the study take the children with suspected genetic epilepsy as research object,identifying pathogenic genes and variant in epilepsy,analyzes the important factors influencing the detection rate of the genetic variant,and provides reference for further understanding of genetic epilepsy.Research ObjectiveThis study analyzes the clinical characteristics of 165 children with suspected genetic epilepsy,analyze the factors affecting the detection rate of the genetic variant,and provide reference for diagnose of genetic epilepsy.Materials and MethodsThe clinical data of children with suspected genetic epilepsy at the Pediatric Neurology Clinic or Hospital Ward of the Third Affiliated Hospital of Zhengzhou University,from September 2018 to May 2020,were collected.The peripheral blood DNA of the children was detected by next-generation sequencing for whole-exome sequencing,The positive variant was verified by Sanger sequencing,and the parents were screened by Sanger sequencing to family verification.The data results were analysed by using SPSS 25.0 statistical software.Count data were expressed by the number of cases and constituent ratio,The comparison of the count data is performed by chi-square test.The test standard wasα=0.05,and P<0.05 showed that the difference was statistically significant.Results1.A total of 165 children with epilepsy were diagnosed,88 males and 77 females,the ratio of male to female,was 1.47:1.The children were between 1 day and 8 years old,the median is three years old.Age of onset:112 cases under 1 year old,53 cases over 1 year older.2.A total of 165 children with epilepsy were diagnosed.Type of attack:focal seizure in 40 cases（24.24%）,generalized seizure in 105 cases（63.64%）,and 20cases（12.12%）were unknown.66 cases of epilepsy syndrome were diagnosed:22cases of Dravet syndrome,18 cases of early onset of epileptic encephalopathy syndrome type,13 cases of infant spasm,6 case of genetic epilepsy with febrile seizures plus,3 cases of benign infantile epilepsy,2 cases of benign familial infantile epilepsy,1 case of benign neonatal epilepsy,1 case of Otahara syndrome.3.Among the 165 children with epilepsy,39 cases（23.64%）of them had a family history of epilepsy,109cases（66.06%）of them had different extent developmental delay,97cases（58.79%）of them had abnormal electroencephalogram,53cases（32.12%）of themhad abnormal brain MRI examination,28cases（16.97%）of them had abnormal birth history.4.A total of 165 children with epilepsy were collected,82 cases（49.70%）of them were positive for genetic variant.The results involved a total of 35 genes,the top four variant rates were 19cases（23.17%）of SCN1A genetic variant,9cases（10.98%）of PRRT2 genetic variant,7cases（8.54%）of PCDH19 genetic variant,6cases（7.32%）of KCNQ2 genetic variant.5.There was a significant correlation between the detection rate of genetic variant and age of onset or the mental and physical development（all P<0.05）.There was no significant correlation between the detection rate of genetic variant and the history of birth,family history,electroencephalogram,Brain MRI or type of seizure（all P>0.05）.ConclusionThe age of onset or the mental and physical development has a certain correlation with the detection rate of genetic variant. |
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