目的分析研究Dravet综合征的临床和分子遗传学特点,以期提高对本病的早期诊断。方法总结分析3例临床疑似Dravet综合征患儿的临床资料,辅助检查特点,应用NGS测序方法一次性检测OMIM数据库中与癫痫相关基因,并采用PCR和Sanger测序法对结果进行验证。结果临床特点:3例患者均有癫痫持续状态经历,以阵挛发作为主,均于1岁以内发病,其中2例患儿首次发作表现为热性惊厥,3例患儿头颅影像学检查均无异常,1例患儿动态脑电图有轻度异常,3例患儿均对抗癫痫药物治疗反应差;基因型特点:3例患儿均检测到SCN1A基因的杂合突变,其中1例同时检测出GPR98基因突变,结合父母验证结果,3例患儿均为新发突变。结论 Dravet综合征早期多以热性惊厥起病,多有癫痫持续状态,形式以阵挛发作为主,辅助检查多无阳性发现,基因检测有助于早期确诊。 Objective To analyze the clinical and molecular genetics of Dravet syndrome in order to improve the early diagnosis of this disease. Methods The clinical data of 3 patients with suspected Dravet syndrome were analyzed and the characteristics of the auxiliary examination were summarized. The NGS sequencing method was used to detect the genes associated with epilepsy in the OMIM database. The PCR and Sanger sequencing results were used to verify the results. Results Clinical features: All the 3 patients had status epilepticus. Most of them were clinically diagnosed as clonorchiasis, all of them were within 1 year of age. Among them, 2 patients had seizure onset for the first time and febrile seizures in 3 patients There was no abnormality. One patient had mild abnormal electroencephalogram (EEG), and 3 patients had poor response to antiepileptic drugs. Genotypes: All three patients had heterozygous mutation of SCN1A gene detected in one patient Detection of GPR98 gene mutation, combined with parental validation results, three cases of new mutations in children. Conclusion In the early stage of Dravet syndrome, most patients have onset of febrile convulsions. Most of them have status epilepticus. The majority of them are clonorchial episodes. Most of them have no positive findings in assistant examinations. Gene test may be helpful for early diagnosis.