14个常染色体显性遗传夜间额叶癫痫家系患者的临床特点及脑电图分析

Clinical characteristics and electroencephalogram analysis of patients in 14 families with autosomal dominant nocturnal frontal lobe epilepsy

目的探讨常染色体显性遗传夜间额叶癫痫(ADNFLE)的临床特征和EEG特点。方法收集14个ADNFLE家系的临床资料并进行回顾性分析。结果 14个家系共157名成员,现存49例患者,均呈常染色体显性遗传特征,其中9个家系每代均有患者。男23例,女26例;发病年龄4-25岁,平均14.6岁。临床表现为偏转强直发作19例(38.78%),姿势性强直发作16例(32.65%),局灶自主神经发作7例(14.29%),过度运动4例(8.16%),一侧阵挛性运动8例(16.33%),全面性失神发作7例(14.29%),发声发作15例(30.61%),惊恐发作3例(6.12%),局灶扩展至双侧强直-阵挛发作(FBTCS)22例(44.90%)。有发作先兆27例(55.10%),发作时伴知觉损害者22例(44.90%)。夜间发作为主48例(97.96%),白天发作为主1例(2.04%)。12例先证者行24 h长程EEG监测显示,发作间期异常11例,双侧放电1例,单侧放电10例(额区6例,颞区4例);癫痫样放电10例,慢波3例。1例先证者监测到发作期EEG表现为突出背景的额区尖波、尖慢波及棘慢波。34例服用抗癫痫药物的患者中,32例(94.12%)疗效良好,2例(5.89%)调整多种抗癫痫药物后疗效仍不佳;15例患者未用药,均随年龄增长逐渐好转。结论 ADNFLE起病年龄小,有家族史,发作特点多表现为夜间成串、刻板且短暂发生的运动发作,神经系统查体及影像学表现多无异常,睡眠期EEG有时可见额区的癫痫样放电,卡马西平治疗多有效,预后良好。

Objective To investigate the clinical and EEG characteristics of autosomal dominant nocturnal frontal lobe epilepsy(ADNFLE). Methods The clinical data of 14 ADNFLE families were collected and analyzed retrospectively. Results There were 147 members in 14 families, including 49 alive patients. All of them showed autosomal dominant inheritance, and 9 families had patients in each generation. Twenty-three cases were male, and 26 cases were female. The age of onset ranged from 4 to 25 years, and the average age of onset was 14.6 years. Clinical symptoms included deflection tonic seizures 19 cases(38.78%), postural tonic seizures 16 cases(32.65%), focal autonomic nerve 7 cases(14.29%), hyper motor 4 cases(8.16%), unilateral clonic movement 8 cases(16.33%), general absence 7 cases(14.29%), vocal seizure 15 cases(30.61%), panic attack 3 cases(6.12%), focal to bilateral tonic-clonic seizures(FBTCS) 22 cases(44.90%). Twenty-seven patients(55.10%) had aura symptoms, 22 patients(44.90%) had awareness of impairment during seizures. Main nocturnal asthma was in 48 cases(97.96%), seizures during the day was in 1 case(2.04%). Twelve probands underwent 24-hour long-range EEG monitoring, and 11 cases had abnormal during the interictal period. One case had bilateral discharge, and 10 cases had unilateral discharge(frontal discharge was in 6 cases, temporal was in discharge 4 cases);10 cases had epileptic discharge, and 3 cases had slow wave. One proband was monitored at the onset stage, and EEG showed sharp, slow waves and spike-wave in frontal region with prominent background. Among 34 patients who taking medicine, 32 cases(94.12%) had good effective, and 2 cases(5.89%) adjusted to use a variety of antiepileptic drugs had poor therapeutic effect. Fifteen patients was not taking medicine, and patients’ conditions were improved with aging. Conclusions ADNFLE has a family history and a younger onset age. The characteristics of ADNFLE are usually manifested in a series of short-term, stereotyped motor seizures at night. There are no abnormalities in physical examination and imaging findings of the nervous system. Epileptic discharges in the frontal area can sometimes be seen in EEG during sleep. Carbamazepine is effective in the treatment of ADNFLE and has a good prognosis.