摘要目的:探讨全外显子组测序技术在儿童抽搐患者中的临床诊断价值。方法:选取28例以抽搐为主要临床表现的患儿为研究对象，收集患儿临床资料，采集患儿及其父母静脉血行全外显子组测序(whole exome sequencing，WES)分析，结合患儿的临床症状寻找相关的致病基因变异，为明确诊断提供遗传学证据。结果:28例临床表现为抽搐的患儿中，男16例，女12例，平均年龄约6岁2个月。共在25例患儿中检测出39种基因变异，包括6种拷贝数变异(copy number variations，CNVs)和涉及29种基因的33种单核苷酸变异(single nucleotide variants，SNVs)。其中3例患儿同时检测出SNVs和CNVs，SNVs检出率为78.6%(22/28)，CNVs检出率为21.4%(6/28)。根据ACMG指南分析16例患儿中检出有致病性/疑似致病性变异，检出率57.1%。结论:应用全外显子测序技术对临床表现抽搐的患儿进行检测，对于寻找抽搐患儿在遗传学病因机制及明确患儿的临床诊断具有重要意义。

abstractsObjective:To explore the clinical diagnostic value of whole exome sequencing(WES) in children with convulsions.Methods:A total of 28 children with convulsions as the main clinical manifestations were selected as the research objects. Clinical data of the children were collected, and the venous blood of the children and their parents was collected and analyzed by whole exome sequencing. In combination with the clinical symptoms of the children, relevant pathogenic gene variants were found to provide genetic evidence for definitive diagnosis.Results:Among the 28 children with clinical manifestations of convulsions, there were 16 males and 12 females, with an average age of about 6 years and 2 months. A total of 39 genetic variants were detected in 25 children, including 6 copy number variants(CNVs) and 33 single nucleotide variants(SNVs) involving 29 genes. SNVs and CNVs were detected in 3 cases, the detection rate of SNVs was 78.6% (22/28), and the detection rate of CNVs was 21.4% (6/28). Pathogenicity/suspected pathogenicity variation was detected in 16 cases according to ACMG guidelines, and the detection rate was 57.1%.Conclusion:The application of whole exon sequencing technology to detect the children with clinical manifestations of convulsions is of great significance for finding the genetic etiological mechanism and clarifying the clinical diagnosis of children with convulsions.