目 的 探 讨 KCNT 1 基因变异相关婴儿癫痫伴游走性局灶性发作（ EIMFS ）的临床特征及基 因变异特点 。方 法 回顾分析 3 例 KCNT 1 基因变异相关 EIMFS 患儿的临床资料 ，并复习相关文献 。结 果 2 例女性患儿分别于 3、6 月龄起病，1 例男性患儿于 2 月龄起病。3 例均以抽搐起病，经基因检测证实 为 KCNT 1 基因新发错义变异，分别为 c. 862 G>A（p.Gly 288 Ser）、c. 2813 A>G（p.Tyr 938 Cys）及 c. 1283 G>A （p.Arg 428 Gln）。1 例患儿头颅磁共振示髓鞘化延迟，胼胝体膝部薄 ；2 例视频脑电图示局灶性癫痫持续状态，其 中 1 例伴高度失律。3 例均予多种抗癫痫药物治疗，2 例予激素治疗，发作仍不能有效控制，并出现运动发育落后。 结论 KCNT 1可能是EIMFS主要致病基因，导致癫痫起病年龄早, 常合并发育迟缓，多种抗癫痫药物及激素治疗效果欠 佳，预后差。

Objective To explore the clinical and gene mutation characteristics of KCNT1 gene mutation associated epilepsy in infancy with migrating focal seizure. Methods The clinical data of KCNT 1 gene mutation associated epilepsy in infancy with migrating focal seizure in 3 children were retrospectively analyzed, and the related literature was reviewed. Results In 2 girls the age at onset was 3 months and at 6 months respectively. In 1 boy the age at onset was 2 months. All the 3 cases were onset with convulsions and diagnosed as new missense mutations of KCNT 1 gene by genetic test, which were respectively c. 862 G>A(p.Gly 288 Ser), c. 2813 A>G (p.Tyr 938 Cys), and c. 1283 G>A(p.Arg 428 Gln). The head magnetic resonance imaging of 2 cases was normal, while 1 case showed delayed myelination and thin knee of corpus callosum. VideoEEG showed focal status epilepticus in 2 cases, of which 1 case had hypsarrhythmia. All the 3 cases were treated with various antiepileptic drugs, but seizures failed to be effectively controlled, and cases appeared motor retardation and even regression. Conclusion KCNT 1 may be the main pathogenic gene of EIMFS,and leads to early onset of epilepsy often accompanied by developmental retardation, poor response to multi-antiepileptic drugs and poor prognosis.