良性癫痫伴中央颞区棘波患儿蛋白延长因子4基因多态性及其并发睡眠中癫痫性电持续状态的影响因素  

Polymorphism of protein elongation factor 4 gene in children with benign epilepsy with centrotemporal spike and its influencing factors for concurrent electrical status epilepticus during sleep

作　　者：张芳 王建忠 刘金 ZHANG Fang;WANG Jianzhong;LIU Jin(Department of Pediatrics,Maternity&Child Care Center of Qinhuangdao,Qinhuangdao 066000,Hebei,China)

机构地区：[1]秦皇岛市妇幼保健院儿科,河北省秦皇岛市066000

出　　处：《广西医学》2023年第8期891-894,共4页Guangxi Medical Journal

基　　金：河北省秦皇岛市科学技术研究与发展计划项目(202101A062)。

摘　　要：目的探讨良性癫痫伴中央颞区棘波(BECT)患儿蛋白延长因子4基因多态性及其并发睡眠中癫痫性电持续状态(ESES)的影响因素。方法选择96例BECT患儿作为观察组,另选取同期进行体检的96例健康儿童作为对照组。比较两组研究对象蛋白延长因子4基因rs964112和rs986527位点基因型及等位基因的频率。根据脑电图结果,将出现弥漫性慢波或局限性慢波合并异常放电的BECT患儿作为ESES组,其他患儿作为非ESES组,采用Logistic回归模型分析BECT患儿出现ESES的影响因素。结果观察组与对照组蛋白延长因子4基因的rs964112和rs986527位点的基因型及等位基因频率差异均有统计学意义(均P<0.05)。多因素Logistic回归分析结果显示,年龄和癫痫首发年龄较小,存在高热惊厥史、癫痫家族史、广泛性3~4 Hz棘慢波、异常放电均为BECT患儿发生ESES的危险因素。结论蛋白延长因子4基因的rs964112和rs986527位点多态性可能增加了BECT的易感性,而年龄和癫痫首发年龄较小,存在高热惊厥史、癫痫家族史、广泛性3~4 Hz棘慢波、异常放电均是BECT患儿发生ESES的危险因素。Objective To explore the polymorphism of protein elongation factor 4 gene in children with benign epilepsy with centrotemporal spike(BECT)and its influencing factors for concurrent electrical status epilepticus during sleep(ESES).Methods A total of 96 BECT children were selected as observation group,and another 96 healthy children undergoing check-up during the same period were selected as control group.The genotype and frequency of alleles of protein elongation factor 4 gene at loci rs964112 and rs986537 in research subjects were compared between the two groups.According to the results of electroencephalogram,BECT children with diffuse slow wave or localized slow wave combined with abnormal discharge were assigned to ESES group,and the remaining children to non-ESES group.The influencing factors for the occurrence of ESES in BECT children were analyzed by employing Logistic regression model.Results There were statistically significant differences in genotype and frequency of alleles of protein elongation factor 4 gene at loci rs964112 and rs986527 between the observation group and the control group(all P<0.05).The results of multivariate Logistic regression analysis revealed that young age and young age at first onset of epilepsy,and the presence of febrile convulsion,family history of epilepsy,generalized 3-4 Hz spike-and-slow wave,as well as the presence of abnormal discharge were the risk factors for the occurrence of ESES in BECT children.Conclusion Polymorphism of protein elongation factor 4 gene at loci rs964112 and rs986527 may increase the susceptibility of BECT,while young age and young age at first onset of epilepsy,and the presence of febrile convulsion,family history of epilepsy,generalized 3-4 Hz spike-and-slow wave,and the presence of abnormal discharge are the risk factors for the occurrence of ESES in BECT children.

关 键 词：良性癫痫伴中央颞区棘波 蛋白延长因子4 睡眠中癫痫性电持续状态 基因多态性 危险因素 儿童 

分 类 号：R361.2[医药卫生—病理学] R742.1[医药卫生—基础医学]