Utin A V, Daniélov M B, Shcherbinina O V
Zh Nevropatol Psikhiatr Im S S Korsakova. 1984;84(6):837-41.
The results of the clinical-genetic examinations of 291 families of the general population are discussed. The authors present tables of empirical risk of recurrent epilepsy and lesser epileptic manifestations (epileptoid psychopathy, childhood convulsions) among the relatives of probands with regard to the degree of kinship, the familial (above all parenthood) identical and non-identical aggravated heridity, clinical polymorphism of the disease and populational characteristics. The questions of the clinical and social prognosis of epilepsy in specific clinical-genetic familial situations are also outlined. The deontologic aspects of the medical-genetic counselling of patients with a familial history of epilepsy are discussed. Groups with high and very high risk of recurrent epilepsy are identified. The findings presented make it possible to improve the medical-genetic counselling as well as clinical and social prognosis in specific familial-genetic situations in epilepsy.
讨论了291个普通人群家庭的临床遗传学检查结果。作者给出了关于先证者亲属中复发性癫痫和较轻癫痫表现（类癫痫性精神病、儿童惊厥）的经验性风险表，涉及亲属关系程度、家族性（首要的是亲子关系）同卵和异卵加重遗传、疾病的临床多态性以及人群特征。还概述了特定临床遗传学家族情况下癫痫的临床和社会预后问题。讨论了有癫痫家族史患者的医学遗传咨询的伦理学方面。确定了复发性癫痫高风险和极高风险群体。所呈现的研究结果使得在癫痫的特定家族遗传情况下改善医学遗传咨询以及临床和社会预后成为可能。
