KCNT1 基因变异相关婴儿癫痫伴游走性局灶性发作3 例报告

目的探讨K C N T 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K C N T 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。

KCNT1 gene mutation associated epilepsy in infancy with migrating focal seizure in 3 cases

Objective To explore the clinical and gene mutation characteristics of KCNT 1 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.Video-EEG 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.