2例KCNT1基因突变婴儿癫痫伴游走性局灶性发作临床特点并文献复习  

Clinical features of 2 infants with KCNT1 gene mutation with epilepsy of infancy with migrating focal seizures and literature review

作　　者：陈晓轶 朱永杰[2] 刘凯[1] 王莉[1] 马燕丽 陈国洪 CHEN Xiaoyi;ZHU Yongjie;LIU Kai;WANG Li;MA Yanli;CHEN Guohong(Department of Neurology;Department of Emergency Intensive Care,Henan Children’s Hospital,Children’s Hospital Affiliated to Zhengzhou University,Zhengzhou Children’s Hospital,Zhengzhou 450000,China)

机构地区：[1]河南省儿童医院,郑州大学附属儿童医院,郑州儿童医院神经内科,郑州450000 [2]河南省儿童医院,郑州大学附属儿童医院,郑州儿童医院急诊重症医学科,郑州450000

出　　处：《临床与病理杂志》2020年第8期2209-2214,共6页Journal of Clinical and Pathological Research

基　　金：河南省医学科技攻关计划(2018020604)。

摘　　要：回顾性分析2例婴儿癫痫伴游走性局灶性发作(epilepsy of infancy with migrating focal seizures,EIMFS)患儿,分析其临床、头颅影像学及视频脑电图特点,采用二代测序癫痫基因检测包分析EIMFS的基因突变筛查结果,总结2例KCNT1基因突变致EIMFS的临床特点及基因特征。2例EIMFS患儿,均为男性,发作起病年龄为均在3个月内,2例均以游走性局灶性发作为主要发作类型,伴自主神经性发作。2例患儿均有频繁癫痫持续状态发生。视频脑电图特点:背景活动慢;发作间期主要表现为大量多灶性放电。头颅磁共振成像(magnetic resonance imaging,MRI)检查均伴异常。基因检测结果:1例为KCNT1基因c.862G>A(p.G288S)杂合突变,来源于母亲,1例为新发突变,c.1283G>A(p.R428Q);2例均应用多种抗癫痫药治疗,1例应用丙种球蛋白针治疗,效果欠佳。EIMFS起病年龄早,发作类型均以游走性局灶性发作为主;多种抗癫痫药物治疗效果差。视频脑电图特征为发作间期大量多灶性放电,发作期为游走性多灶性放电。遗传性因素为该病主要病因,基因检测可协助诊断及指导遗传咨询,KCNT1基因突变为该病热点突变之一。Two epilepsy of infancy with migrating focal seizures(EIMFS)children was performed on retrospective analysis,the clinical,imaging and video electroencephalograms characteristics were analyzed.Candidate gene mutations were screened by next generation sequencing.The clinical and genetic characteristics of 2 cases of EIMFS caused by KCNT1 gene mutation were summarized.Two patients were all males.Seizure onset age was within 3 months.Migrating focal seizure was presented,Autonomic manifestations were accompanied,etc.All patients had a history of status epilepticus.Corresponding EEG shows low-medium-amplitude fast waves that originated from some brain regions and migrated to other region.Cranial magnetic resonance imaging(MRI)was abnormal in 2 cases.Two cases carried heterozygous mutations of KCNT1 gene,one of which was c.862G>A(p.G288S),from his mother,and the other was de novo c.1283G>A(p.R428Q).Both cases were treated with various antiepileptic drugs,and of one gamma globulin injection was used,with poor efficacy.EIMFS is clinically characterized by early onset,which is usually within 3 months after birth,migrating focal seizure.The interictal EEG shows multi-focal discharges,while the attack stage was migratory multifocal discharge.Genetic factors are the main causes of the disease,KCNT1 gene mutation is one of the hot spot mutations of the disease.

关 键 词：婴儿癫痫伴游走性局灶性发作 基因突变 临床特征 

分 类 号：R742.1[医药卫生—神经病学与精神病学]