Abstract: Objective　To explore the clinical characteristics of 6 pedigrees of autosomal dominant noctumal frontal lobe epilepsy in China. Methods　The probands of 6 families in China from January,2001 to December, 2007, who were referred to our department for recurrent seizures and seizure history were investigated on affected individuals and unaffected， thus the comprehensive pedigrees were constructed and the clinical data were analyzed. Types and epilepsy syndromes were classified according to international classification. The results were analyzed with the software of SPSS 13. 0 and the incidence of recurred seizures was tested in males and females with χ2 test. Results　There were 59 people in 6 families， including 24 patients, but only 22 survived （9 male and 13 female）. The incidence of recurrent seizures in males and females had no significant difference（χ2=0. 413，P > 0. 05）. There were 20 patients who were characterized by clusters of brief seizures during night sleep and EEG showed spike-slow waves in frontal lobe. One patient’s symptom was tonic seizures, developing from simple partial seizures. His AEEG showed spike-slow waves and high amplitude θ waves in frontal section on both sides. And the other patient symptom was self-motion syndrome and seizures during night sleep. The EEG showed spike-slow waves in frontal and center sections on left side. The attacks were well controlled by antiepileptic drugs. All the patients ‘nerve system examination and MRI were normal. Conclusion　 ADNFLE is characterized by clusters of brief seizures during night sleep that are often misdiagnosed as nightmares.

Key words: epilepsy,frontal lobe, family genetic disease

摘要： 探讨常染色体显性遗传夜间发作性额叶癫痫（ADNFLE）家系的临床特点。方法　收集2000年1月至2007年12月就诊于广东省人民医院儿科癫痫专科门 诊6个ADNFLE家系资料，详细调查及建立家系图，并对患者的临床资料进行总结分析。对临床发作和癫痫综合征进行分类。结果　6个家系共有59名成员接受调查 ，结果发现患者24例，存活22例，其中男9例，女13例；年龄6～74岁，平均年龄31岁，中位年龄21岁，男女患病率差异无统计学意义 （χ2=0. 413，P > 0. 05 ）。存活22例患者中，20例表现夜间丛集短暂运动性发作，脑电监测显示额区尖慢波发放。1例由简单部分性发展为强直性发作。1例患者表现为夜间睡眠中运动 性发作伴自动症。结论 　ADNFLE主要临床表现为夜发性、丛集性、短暂性运动性癫痫。

关键词: 常染色体显性遗传, 额叶癫痫, 家系遗传病