目的:探讨YWHAG基因新生突变致1例早发性癫痫性脑病患儿的临床特征、基因突变特点、诊断、治疗及预后。方法:收集郑州大学附属儿童医院东区神经内科2018年1月确诊的1 例YWHAG基因新生突变致早发性癫痫性脑病患儿的临床资料，总结其临床特征。对核心家系成员进行全外显子组测序，并对基因突变特点进行分析。结果:先证者为女童，3岁10个月，因“间断性抽搐6个月”就诊于神经内科门诊。临床表现为癫痫发作、智力障碍、精神及运动发育迟滞、共济失调。头颅磁共振成像示髓鞘化发育不良；长程视频脑电图示广泛性1.5~3.0 Hz棘慢波发放，睡眠期多灶尖波发放，监测中患儿有临床发作；同期脑电图有异常放电，提示肌阵挛伴不典型失神。核心家系全外显子组基因测序结果发现，先证者YWHAG基因存在一杂合新生突变：NM_012479：c.169C>T（p.Arg57Cys），根据2015年美国医学遗传学与基因组学学会指南，该变异为可能致病突变。结论:YWHAG基因突变引起的早发性癫痫性脑病非常罕见，YWHAG基因c.169C>T变异是先证者早发性癫痫性脑病遗传学病因的可能致病变异。“,”Objective:To report a rare case of early onset epileptic encephalopathy caused by YWHAG gene mutation, and discuss the clinical and genetic characteristics as well as the diagnosis, treatment and prognosis of the disease.Methods:Clinical data of the patient with YWHAG gene deficiency from Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University were collected in January 2018. The whole exome sequencing was performed on the core members of the family, and the characteristics of gene mutations were analyzed.Results:The proband is a girl, three years and 10 months old, presented to the outpatient department of neurology with a history of six-month intermittent convulsions, manifested as epilepsy seizures, mental retardation, motor delay and gait instability, ataxia. The brain magnetic resonance imaging showed myelinated dysplasia, and long-term video electroencephalogram (EEG) showed extensive 1.5-3.0 Hz slow spikes, and multiple spikes during sleep. During the monitoring, the children had clinical seizures and abnormal EEG discharges, indicating that myoclonus was accompanied by atypical absence of consciousness. Whole exome sequencing on the proband detected a de novo mutation c.169C>T (p.Arg57Cys) in YWHAG gene. According to American College of Medical Genetics guidelines (2015), the mutation was considered potentially pathogenic.Conclusion:Early epileptic encephalopathy caused by YWHAG gene mutation is very rare, and the variation of YWHAG gene c.169C>T is the possible pathogenic variation of the genetic cause of early onset epileptic encephalopathy in the proband.