CAJ | 학술논문

目的分析夜发性额叶癫痫3个家系的临床、脑电图和遗传学特征.方法在3个夜发性额叶癫痫家系患者及部分亲属中收集临床、脑电图及神经影像学等资料,并采用测序方法筛查烟碱型乙酰胆碱受体(nAChR)α4、β2和α2亚单位编码基因(CHRNA4、CHRNB2和CHRNA2).结果 3个家系中有6例患者(其中男5例),平均年龄(20.5±11.5)岁,平均发病年龄(7.3±5.5)岁,临床表现为夜发性额叶发作,具体发作类型包括姿势性发作2例,躯体自动症发作4例,最多每夜发作6次.发作间期、发作期视频脑电图2例患者表现为正常或动作伪差,2例表现为前部导联慢波节律,3例出现前部导联棘波、棘慢波及尖波.神经系统及神经影像检查未见异常.抗癫痫药物治疗反应良好.CHRNA4、CHRNB2和CHRNA2部分序列(包含跨膜区1～3)筛查未见突变.结论夜发性额叶癫痫是一种遗传异质性癫痫综合征.
목적 분석야발성액협전간3개가계적림상、뇌전도화유전학특정.방법 재3개야발성액협전간가계환자급부분친속중수집림상、뇌전도급신경영상학등자료,병채용측서방법사사연감형을선담감수체(nAChR)α4、β2화α2아단위편마기인(CHRNA4、CHRNB2화CHRNA2).결과 3개가계중유6례환자(기중남5례),평균년령(20.5±11.5)세,평균발병년령(7.3±5.5)세,림상표현위야발성액협발작,구체발작류형포괄자세성발작2례,구체자동증발작4례,최다매야발작6차.발작간기、발작기시빈뇌전도2례환자표현위정상혹동작위차,2례표현위전부도련만파절률,3례출현전부도련극파、극만파급첨파.신경계통급신경영상검사미견이상.항전간약물치료반응량호.CHRNA4、CHRNB2화CHRNA2부분서렬(포함과막구1～3)사사미견돌변.결론 야발성액협전간시일충유전이질성전간종합정.
Objective To investigate the clinical,electroencephalogram (EEG) and genetic features of nocturnal frontal lobe epilepsy (NFLE) in the Chinese population.Methods Clinical examination,EEG recording,mutation screenings in transmembrane domains 1-3 of neuronal nicotinic acetylcholine receptor (nAChR) α4 (CHRNA4),β2 (CHRNB2) and α2 (CHRNA2) using PCR amplification and sequencing were carried out on 6 patients and some members in 3 families with NFLE.Results Among 6 patients (5 male) with NFLE,the mean age was (20.5±11.5) years and the mean age at onset was (7.3±5.5) years.Clinical features included seizures of dystonic posturing in 2 patients and seizures of hyperkinetic movements in 4 patients with the maximum frequency of 6 seizures within one night.The ictal and interictal video-EEG (VEEG) of frontal lobes showed epileptic discharges,slow wave activity,normal activity or electrode artifacts.There weren' t abnormity in other clinical examination and neuroimagings.No mutations were identified in the genes screened.Conclusion NFLE is a heterogenetic epilepsy syndrome.