Background The KCNT1 gene encodes a Na+-activated K+channel.Gain-of-function mutations of KCNT1 lead to autosomal dominant sleep-related hypermotor epilepsy,early-onset epileptic encephalopathy,focal epilepsy and othe...Background The KCNT1 gene encodes a Na+-activated K+channel.Gain-of-function mutations of KCNT1 lead to autosomal dominant sleep-related hypermotor epilepsy,early-onset epileptic encephalopathy,focal epilepsy and other epileptic encephalopathies.In this paper,we report a boy carrying a KCNT1 gene mutation,who presented with drug-resistant focal-onset seizures.He had decreased seizure frequency and improvement of background changes in electroencephalography(EEG)after vagus nerve stimulation(VNS).Case presentation The case was a nonverbal 9-year-old male who presented with drug-resistant focal-onset seizures since age 3 and had underwent VNS therapy for 2 years.He had hypermotor symptoms,automatism and bilateral asymmetric tonic seizures with cognitive decline and aphasis from age 3.The patient had a variety of seizure types that only occurred at night.The most common seizure type was automatisms,and ictal video EEG showed high-amplitude delta waves,followed by a fast rhythmic sharp activity in the mesial frontal and bitemporal regions.The patient was diagnosed with KCNT1-related epilepsy,epileptic encephalopathy and cognitive disorder.He was refractory to multiple anti-seizure medicines(ASM)and ketogenic diet.After VNS treatment at age 7,the frequency of seizures was reduced significantly and EEG was improved in background slowing.Conclusions Children with KCNT1-related epilepsy usually have early onset of disease,are nonverbal,and are refractory to ASM.This boy with drug-resistant KCNT1-related epilepsy showed significantly reduced seizure frequency after VNS.This report may provide reference for management of cases of KCNT1-related epilepsy.展开更多
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...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。展开更多
文摘Background The KCNT1 gene encodes a Na+-activated K+channel.Gain-of-function mutations of KCNT1 lead to autosomal dominant sleep-related hypermotor epilepsy,early-onset epileptic encephalopathy,focal epilepsy and other epileptic encephalopathies.In this paper,we report a boy carrying a KCNT1 gene mutation,who presented with drug-resistant focal-onset seizures.He had decreased seizure frequency and improvement of background changes in electroencephalography(EEG)after vagus nerve stimulation(VNS).Case presentation The case was a nonverbal 9-year-old male who presented with drug-resistant focal-onset seizures since age 3 and had underwent VNS therapy for 2 years.He had hypermotor symptoms,automatism and bilateral asymmetric tonic seizures with cognitive decline and aphasis from age 3.The patient had a variety of seizure types that only occurred at night.The most common seizure type was automatisms,and ictal video EEG showed high-amplitude delta waves,followed by a fast rhythmic sharp activity in the mesial frontal and bitemporal regions.The patient was diagnosed with KCNT1-related epilepsy,epileptic encephalopathy and cognitive disorder.He was refractory to multiple anti-seizure medicines(ASM)and ketogenic diet.After VNS treatment at age 7,the frequency of seizures was reduced significantly and EEG was improved in background slowing.Conclusions Children with KCNT1-related epilepsy usually have early onset of disease,are nonverbal,and are refractory to ASM.This boy with drug-resistant KCNT1-related epilepsy showed significantly reduced seizure frequency after VNS.This report may provide reference for management of cases of KCNT1-related epilepsy.
文摘目的探讨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。
