| 王海侠，刘晓鸣，岳璇，陈娇.86例癫痫性脑病患儿的遗传特征研究[J].神经损伤功能重建,2021,16(12):702-705 |
| 86例癫痫性脑病患儿的遗传特征研究 |
| Genetic Characteristics of 86 Children with Epileptic Encephalopathy |
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| DOI： |
| 中文关键词: 基因突变 癫痫性脑病 儿童 临床 |
| 英文关键词: gene mutation epileptic encephalopathy children clinic |
| 基金项目: |
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| 中文摘要: |
| 目的：探讨癫痫性脑病（EE）患儿的遗传特征，明确分子水平病因。方法：以86例不明原因EE患儿为
研究对象，对其进行家系全外显子组测序（WES）及基因组拷贝数变异（CNV）分析。结果：86例EE患儿中，
具有明确致病意义的遗传变异51例（59.30%），包括基因突变46例（53.49%），CNV 5例（5.81%）；其中新生
突变44例，占总致病变异的86.27%。86例EE患儿中，新生儿期发病11例，婴儿期发病52例，幼儿期发病
18例，学龄前期发病5例。结论：儿童EE基因突变率高，以新生突变为主，发病年龄以婴幼儿期为主。 |
| 英文摘要: |
| To explore the genetic characteristics of children with epilepsy encephalopathy (EE),
and to determine the molecular level etiology. Methods: A total of 86 children with unexplained EE were recruited. Whole exon sequencing (WES) and genomic copy number variant (CNV) analysis were performed. Re⁃
sults: Among the 86 children with EE, there were 51 cases (59.30%) of genetic variation with definite pathogenicity, including 46 (53.49%) with gene mutation and 5 (5.81%) with CNV mutation; among these 51 cases, 44
(86.27%) had de novo variants. Of the 86 children with EE, 11 experienced disease onset during the neonatal period, 52 during infancy, 18 during early childhood, and 5 during preschool age. Conclusion: The gene mutation
rate in childhood EE is high. Mutation is mainly de novo, and onset occurs primarily during infancy and early
childhood. |
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