2025 年第 5 期 第 20 卷

以抽搐发作为首发症状存在SCN8A基因变异的婴儿癫痫1例并文献复习

A case of infantile epilepsy with SCN8A gene variation as the first symptom of convulsion and literature review

作者：贺春艳1严晓华2李宏艳2王洁英2郭向阳1,3

英文作者：He Chunyan1 Yan Xiaohua2 Li Hongyan2 Wang Jieying2 Guo Xiangyang13

单位：1西安医学院，西安710021；2陕西省人民医院儿科，西安710068；3陕西省人民医院儿保科，西安710068

英文单位：1Xi′an Medical University Xi′an 710021 China; 2Department of Paediatrics Shaanxi Provincial People′s Hospital Xi′an 710068 China; 3Department of Paediatric Care Shaanxi Provincial People′s Hospital Xi′an 710068 China

关键词：癫痫；SCN8A基因；抽搐

英文关键词：Epilepsy;SCN8Agene;Convulsion

• 摘要：

• 癫痫是一组慢性脑部疾病。本文对陕西省人民医院收治的1例4月龄男性以抽搐发作为首发症状的存在SCN8A基因变异的癫痫患儿的临床资料、全外显子组测序检测结果及诊疗过程进行总结。患儿因“发作性抽搐半天”入院，入院后患儿仍反复抽搐发作，头颅磁共振成像及视频脑电图均未见异常。全外显子组测序检测报告显示：SCN8A、chr12:52184185;c.4223G>A(p.Gly1475Arg)变异。给予抗癫痫发作药物治疗，症状缓解。结合对相关文献的复习认为对于小于6月龄的婴儿出现不明原因癫痫发作，常规检查结果不能明确病因，应积极完善基因测序检查帮助诊断，为制定精准治疗方案提供思路，为家庭遗传咨询提供帮助。

• Epilepsy is a group of chronic brain diseases. This article summarizes the clinical data, whole exome sequencing test results, diagnosis and treatment process of a 4-month-old boy with epilepsy with SCN8A gene variation who was admitted to Shaanxi Provincial People′s Hospital and presented with seizures as the first symptom. The child was admitted to the hospital due to "paroxysmal seizures for half a day". After admission, the child still had recurrent seizures, and the brain magnetic resonance imaging and video electroencephalogram were normal. The whole exome sequencing test report shows that: SCN8A, chr12:52184185;c.4223G>A(p.Gly1475Arg) variation. After the treatment with antiepileptic drugs, the symptoms were relieved. Combined with the relevant literature review, we believe that for infants less than 6 months of age with unexplained seizures, routine examination results can not identify the cause, gene sequencing should be actively improved to help the diagnosis, to provide ideas for the development of precise treatment plans, and to provide help for family genetic counseling.