KCNT1基因变异相关婴儿癫痫伴游走性局灶性发作患儿临床分析  

Clinical analysis of EIMFS with KCNT1 gene mutation

作　　者：康庆云[1] 廖红梅[1] 杨赛[1] 胡文静[1] 王苗 杨理明[1] KANG Qing-yun;LIAO Hong-mei;YANG Sai;HU Wen-jing;WANG Miao;YANG Li-ming(Department of Neurology,Hunan Children′s Hospital,Changsha 410007,China)

机构地区：[1]湖南省儿童医院神经内科,湖南长沙410007

出　　处：《实用药物与临床》2021年第4期326-329,共4页Practical Pharmacy and Clinical Remedies

基　　金：湖南省卫生计生委科研课题(B20180528)。

摘　　要：目的总结KCNT1基因变异相关婴儿癫痫伴游走性局灶性发作(EIMFS)的临床特点。方法回顾性分析2018年8月至2020年5月就诊于湖南省儿童医院神经内科的KCNT1基因变异相关的EIMFS患儿,对其临床表现、头颅影像学、脑电图特点、治疗及随访情况进行分析总结。结果共4例患儿,均携带不同的KCNT1基因杂合突变,其中1例为遗传性变异,3例为新生变异。4例患儿起病年龄2~110 d,发作类型均为频繁的多种类型的游走性局灶性发作,其中1例病程中有癫痫持续状态,1例患儿病程中出现痉挛发作。4例患儿均应用多种抗癫痫药物,1例暂时有效,1例癫痫发作部分控制,2例发作未控制。2例患儿应用生酮饮食治疗,无明显疗效,1例患儿应用奎尼丁治疗,无明显疗效且出现QT间期延长。4例患儿均有明显运动智力发育落后。结论KCNT1基因变异EIMFS起病年龄早,多在新生儿期及婴儿期早期,主要发作类型为游走性的局灶性发作,发作频繁,均伴随运动、智力发育落后,对抗癫痫药治疗反应差,奎尼丁及生酮饮食疗效尚需大样本的治疗研究进一步明确。Objective To summarize the clinical characteristics of EIMFS with KCNT1 gene mutation.Methods Retrospectively analyze the clinical data of 4 cases of EIMFS with KCNT1 gene mutation receiving treatment in the Department of Neurology of Hunan Children′s Hospital from August 2018 to May 2020,and their clinical manifestations,cranial imaging,EEG characteristics,treatment and follow-up were analyzed and summarized.Results All 4 patients carried different heterozygous mutations of KCNT1 gene,including 1 genetic mutation and 3 de novo mutation.The onset age of the 4 children was 2~110 d,and the 4 children all had frequent and multiple types of migrating focal seizures,including 1 patient with epileptic persistent state in the course of the disease,and 1 patient with spasm seizure in the course of the disease.All 4 cases were treated with various antiepileptic drugs,with temporary effect in one case,partial control of epileptic seizure in one case and no control in 2 cases.Two children were treated with ketogenic diet,but no significant effect was found.Treatment with quinidine showed no significant effect and prolonged QT interval.All the 4 children had significant motor and mental retardation.Conclusion The onset of EIMFS with KCNT1 gene mutation is at an early age,usually in neonatal and early infant period.The main seizure type was epilepsy of migrating focal seizure and it is frequent.Patients usually have severe psychomotor developmental delay.The efficacy of antiepileptic drugs is not significant.The effect of quinidine and ketogenic diet needs to be clarified by treatment studies of a large sample.

关 键 词：婴儿癫痫伴游走性局灶性发作 KCNT1 基因突变 

分 类 号：R742.1[医药卫生—神经病学与精神病学]