目的 探讨Dravet综合征临床及HCN1基因变异特征。方法 回顾分析1例Dravet综合征患儿的临床资料及 基因检测结果。结果 1岁11个月女性患儿，4月龄起病，表现为反复发热诱发的惊厥发作，发作时呈惊厥持续状态，发作 形式多样。基因检测发现HCN 1基因c. 1199 T>C错义变异，导致第400号亮氨酸变异为脯氨酸（p.Leu 400 Pro）；其父母该 位点未见异常，为新生变异，尚未见报道。结论 明确HCN 1基因新生变异为致病基因，丰富了Dravet综合征的基因型。

Objective To explore the clinical manifestations and HCN 1 gene mutation in Dravet syndrome. Methods The clinical data and gene test results of Dravet syndrome in a child were retrospectively analyzed. Results The proband was a one year and 11 months old female who had recurrent febrile seizure onset from 4 months old, she presented with status epilepticus and various seizure types. Gene sequencing identified a de novo heterozygous mutation of c.1199 T>C (p.L400 P) in the HCN 1 gene. Conclusion The novel mutation of HCN 1 gene was classified as pathogenic, which enriched the mutation spectrum of Dravet syndrome.