目的　探讨早发性癫痫性脑病的基因变异特点。方法　回顾分析1例早发性癫痫性脑病患儿的临床资料及 基因检测结果。结果　女性患儿，出生后30分钟出现间断抽搐，频繁发作。多种抗癫痫药物（苯巴比妥、水合氯醛、地西泮、 丙戊酸钠、左乙拉西坦、氯硝西泮、奥卡西平）均无效。二代测序发现患儿KCNA2 基因c.1120A>G 杂合变异，父母均未携带， 为新发变异。结论　该变异的致病性已有文献报道，但为国内首次报道。扩充了国内早发性癫痫性脑病的基因突变谱。

Objective　To investigate the genetic variation of early epileptic encephalopathy. Method　The clinical data and gene detection results of early epileptic encephalopathy in a child were analyzed retrospectively. Results　A girl suffered from intermittent and frequent convulsions 30 minutes after birth. Many kinds of antiepileptic drugs, such as phenobarbital, chloral hydrate, diazepam, valproate, levetiracetam, clonazepam, oxcarbazepine were ineffective. Second-generation sequencing revealed a heterozygous mutation of c.1120A>G in KCNA2 gene in the child, which was not carried by either parent and was a new mutation. Conclusion　The pathogenicity of the mutation has been reported in literature, but it is the first report in China. The gene mutation spectrum of early epileptic encephalopathy in China has been expanded.