夜发性额叶癫痫三家系临床和遗传学特征

Clinical and genetic studies in three families with nocturnal frontal lobe epilepsy

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）讲、132和以亚单位编码基因（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。

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 ）, 132 （ 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.