目的:探讨脑电图表现为暴发-抑制的早发性癫痫脑病(EOEE)患儿的临床特点，分析其致病基因突变的表型特征。方法:收集2013年6月至2019年6月华中科技大学同济医学院附属武汉儿童医院45例脑电图表现为暴发-抑制的EOEE患儿的临床资料，采集患儿及其父母外周血，应用疾病基因全外显子二代测序技术进行测序分析，寻找可疑致病性突变，基因突变均用Sanger测序验证。结果:45例患儿包括大田原综合征25例、早期肌阵挛脑病4例、非综合征类EOEE 16例。40例患儿早期脑电图表现持续性暴发-抑制，中位年龄为1个月(3 d～8周)，其中5例伴双半球间断低电压。另5例早期脑电图异常，但未出现暴发-抑制，其中2例早期脑电图具有多灶性尖波不连续性发放，均在3月龄时出现短暂性暴发-抑制；2例早期具有持续性多灶性棘波，3.5月龄时出现短暂性暴发-抑制；1例早期具有正常脑电背景，2月龄时出现短暂性暴发-抑制。45例患儿均行基因检测，检出拷贝数变异2例，其余检出突变基因n KCNQ2(4例)、n KCNQ3(1例)、n STXBP1(1例)、n SCN2A(2例)、n PIGA(1例)。最大的遗传学亚组为n KCNQ2突变亚组，占44.4%(4/9例)。治疗后6例患儿癫痫发作控制，39例患儿癫痫发作未控制。n 结论:脑电图表现为暴发-抑制的EOEE患儿临床表型多样，以大田原综合征最常见，国内发现致病基因n KCNQ2、STXBP1、SCN2A、PIGA与国际报道一致，最常见的遗传学亚组为n KCNQ2突变亚组，总体治疗效果差。n “,”Objective:To investigate the clinical characteristics of burst-suppression (BS) on electroencephalogram(EEG) in children with early-onset epileptic encephalopathy (EOEE), and to analyze the phenotypic features of pathogenic mutations.Methods:The clinical data from 45 EOEE children with BS on EEG between June 2013 and June 2019 in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Techno-logy was recruited and analyzed.The peripheral blood of children and their parents was collected.Next generation sequencing was applied to find suspected pathogenic mutations and all the confirmed mutations were verified by Sanger sequencing.Results:Among the 45 children, 25 cases suffered from Ohtahara syndrome (OS), 4 cases with early myoclonic encephalopathy (EME) and 16 cases with non-symptomatic EOEE.There were 40 patients with early EEG persistent BS, with the median age of 1 month (from 3 days to 8 weeks), 5 cases of which were accompanied by double hemisphere intermittent low voltage.Another 5 patients accepted early abnormal EEG, without BS occurring, among them 2 patients had multifocal spike discontinuities in early EEG, and all of them displayed transient BS at 3 months, 2 patients had persistent multifocal spikes in the early stage and transient BS at 3.5 months, and 1 patient had normal EEG background at the early stage and transient BS at 2 months.All the 45 patients received genetic testing, 2 cases had copy number variations and remaining patients presented n KCNQ2 (4 cases), n KCNQ3 (1 case), n STXBP1 (1 case), n SCN2A (2 cases) and n PIGA (1 case)gene mutations.The largest genetic subgroup was n KCNQ2 mutation subgroup, accounting for 44.4%(4/9 cases). After the treatment, 6 patients had seizure under control, and 39 cases had uncontrolled seizures.n Conclusions:EOEE-BS children have various clinical phenotypes.Among them, the most common type is OS.The pathogenic genes of n KCNQ2, STXBP1, SCN2A and n PIGA are consistent with the international reports.The most common genetic subgroup is n KCNQ2 mutation, and the overall treatment effect is poor.n