【摘要】 目的研究108个汉族癫家系的遗传模式及其临床特征。方法用分离分析法和多基因阈值理论结合系谱分析对108个癫家系的遗传方式进行调查,同时按遗传流行病学方法研究其表型及其临床特征。结果共调查108个癫家系的2919个家庭成员。共发现24个常染色体显性遗传家系,19个X-连锁显性或隐性遗传家系,51个常染色体隐性遗传家系,另有14个家系为非孟德尔遗传模式。2个家系符合家族性颞叶癫,1个家系符合具有不同病灶的家族性部分性癫。108个家系中共有患者537例(已死亡67例),其中复杂部分性发作45例,单纯部分性发作12例,部分继发全身强直-阵挛性发作213例,强直性发作13例,全身强直-阵挛性发作254例。结论重庆地区和四川省的汉族癫家系有多种不同的遗传模式。不同家系、同一家系中的不同患者可有不同的表型或预后。应特别关注家族性颞叶癫、具有不同病灶的家族性部分性癫的存在。更多还原

【Abstract】 Objective To study clinical features and genetic model of the families with epilepsy in Chongqing and Sichuan Province. Methods The hereditary modes were investigated in 108 epileptic families with segregation analysis method and using polygenic theory, their phenotypes and clinical features were also studied by genetic epidemiology. Results 2919 siblings in the 108 families with epilepsy were studied. The results showed that 24, 51, 19, 14 epileptic families were respectively in the modes of autosomal dominant inheritance,autosomal recessive inheritance, X-sex inheritance, polygenic inheritance. There were two cases of familial temporal lobe epilepsy and one familial partial epilepsy with variable foci. Among 537 patients with epilepsy, including 67 dead cases, there were 45 cases of complicated partial epilepsy, 12 simple epilepsy, 213 partial epilepsy secondary to holotonic-toniclonic one, 13 tetanic epilepsy and 254 holotonic-toniclonic epilepsy. Conclusions The findings suggest that there are several models of inheritance in familial epilepsy. The affected members in the same family may have different clinical features and prognosis. Special attentions must be paid to the existence of familial temporal lobe epilepsy and familial partial epilepsy with variable foci.更多还原