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目的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。
Objective To investigate the clinical features of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) pedigree. Methods The data of 6 ADNFLE pediatric pediatric epilepsy clinics attending Guangdong Provincial People’s Hospital from January 2000 to December 2007 were collected, the detailed investigation and establishment of pedigrees were conducted, and the clinical data of the patients were summarized and analyzed. Clinical seizures and epilepsy syndrome classification. Results A total of 59 members from 6 families were surveyed and found 24 patients were alive and 22 survived, including 9 males and 13 females; aged 6 to 74 years old, with a mean age of 31 years and a median age of 21 years. The difference was not statistically significant (χ2 = 0.413, P> 0.05). Of the 22 patients who survived, 20 showed transient motor clustering at night, and EEG monitoring showed a slow wave delivery in the frontal area. One case developed from simple partial to tonic. One patient presented with nocturnal seizures with nocturnal sleep disorder. Conclusion The main clinical manifestations of ADNFLE are nocturnal, clustered and transient motor epilepsy.