Tsuboi T, Endo S
Hum Genet. 1977 Apr 15;36(2):173-89. doi: 10.1007/BF00273256.
The marriage rate of epileptic patients was 62% in males and 78% in females. Compared with the rates in the general population, the male patients had a 15% lower rate, but there was no difference in females. There were 263 patients with at least one offspring selected for the study. There were 234 sons and 272 daughters (506 total, 1.9 per patient). Distribution by types of seizure was awakening grand mal, absence or myoclonic petit mal in 24%, grand mal with no aura in 21%, grand mal during sleep in 23%, diffuse grand mal in 7%, grand mal with aura in 13%, psychomotor seizure in 9%, and focal seizure in 3%. The probands were composed of 79% idiopathic and 21% symptomatic in pathogenetic classification. An epileptic EEG abnormality was demonstrated in 22% of male and 44% of female probands. The incidence of seizures among offspring was 2.4% (4.2% age-corrected) in a narrow sense (epilepsy) and 9.1% in a broad sense including febrile convulsions. The latter morbidity was 11.0% for the idopathic and 3.2% for the symptomatic group; 11.0% for female and 6.9% for male probands; 10.2% for sons and 8.1% for daughters. The figure was higher for the probands with the age range at onset of seizure of 0--4 years (20.6%) and 20--29 years (12.6%) than for those with other age ranges; higher for those with awakening grand mal, absence, myoclonic petit mal, for those with family history of epilepsy than those without it. Possible correlation of types of seizure between probands and offspring was demonstrated. Thirty-seven percent of offspring exhibited epileptic EEG abnormalities, and the ratio of epileptic EEG abnormalities to clinical manifestation is about 4:1. Possible existence of familial aggregation of EGG abnormalities and of two kinds of families with large or small epileptic predisposition was indicated. The importance of the role of hereditary and environmental factors in epileptic pathogenesis is proved, and the results of an investigation of congenital malformation among offspring of epileptic mothers are presented. These results were considered to be useful for genetic counseling of epileptic patients.
癫痫患者的结婚率男性为62%，女性为78%。与普通人群的结婚率相比，男性患者的结婚率低15%，但女性患者无差异。共有263例至少育有一个子女的患者被选入该研究。共有234个儿子和272个女儿（共506个，平均每位患者1.9个）。按癫痫发作类型分布为：觉醒大发作、失神或肌阵挛小发作占24%，无先兆大发作占21%，睡眠中发作大发作占23%，弥漫性大发作占7%，有先兆大发作占13%，精神运动性发作占9%，局灶性发作占3%。在先证者的病因分类中，79%为特发性，21%为症状性。男性先证者中22%、女性先证者中44%脑电图有癫痫异常表现。后代癫痫发作的狭义发病率（癫痫）为2.4%（年龄校正后为4.2%），广义发病率（包括热性惊厥）为9.1%。后一种发病率在特发性组为11.0%，症状性组为3.2%；女性先证者为11.0%，男性先证者为6.9%；儿子为10.2%，女儿为8.1%。癫痫发作起始年龄在0至4岁（20.6%）和20至29岁（12.6%）的先证者的发病率高于其他年龄范围的先证者；觉醒大发作、失神、肌阵挛小发作以及有癫痫家族史的先证者的发病率高于无家族史者。先证者与后代癫痫发作类型之间存在可能的相关性。37%的后代脑电图有癫痫异常表现，脑电图异常与临床表现的比例约为4∶1。提示脑电图异常可能存在家族聚集性以及存在癫痫易感性大小不同的两类家庭。证实了遗传因素和环境因素在癫痫发病机制中的重要作用，并给出了癫痫母亲后代先天性畸形的调查结果。这些结果被认为对癫痫患者的遗传咨询有用。
