目的 探讨 KCNT 1 基因变异所致早发癫痫性脑病的临床特点、诊断及治疗。方法 回顾分析 1 例确诊 KCNT 1基因变异相关早发癫痫性脑病患儿的临床资料，并复习相关文献。结果 患儿女，2岁7个月，自新生儿期起频繁 癫痫发作，以局灶阵挛性发作为主要表现，伴发育落后。脑电图示痫样放电。头颅影像学及遗传代谢筛查无明显异常。基 因检测结果患儿存在KCNT1基因变异c.1041G>C（p.Glu347Asp）（NM_020822.2）。予奎尼丁口服治疗后癫痫发作有所缓解。 结论 KCNT 1基因变异相关早发癫痫性脑病可在新生儿期起病，伴精神运动发育异常；奎尼丁治疗可能有效。

Objective To explore the clinical characteristics, diagnosis and treatment of early-onset epileptic encephalopathy caused by KCNT1 gene mutation. Methods The clinical data of an early-onset epileptic encephalopathy associated with KCNT 1 gene mutation in a child were retrospectively analyzed, and the related literature was reviewed. Results The female patient aged 2 years and 7 months had frequent seizures since the neonatal stage and the main manifestation was focal clonic seizures accompanied by developmental retardation. The electroencephalogram showed epileptic discharge. There were no obvious abnormalities in cranial imaging and genetic metabolism screening. Genetic testing showed a mutation of c.1041G>C (p.Glu 347 Asp) (NM_ 020822 . 2 ) in KCNT 1 gene. The seizures were relieved after treatment with oral quinidine. Conclusion KCNT1 gene mutation-related early-onset epileptic encephalopathy can be onset in the neonatal period with abnormal psychomotor development. Quinidine may be effective for the treatment.