Fukuyama Y, Kagawa K, Tanaka K
Eur Neurol. 1979;18(3):166-82. doi: 10.1159/000115073.
307 probands with febrile convulsions classed as the simple type (131 children) and the complicated type (176 children) were genetically analyzed. There was a tendency toward familial aggregation of febrile convulsions, and genetic involvement was suggested. The multifactorial mode of inheritance best agreed with the observations. (1) The ratio of incidence of febrile convulsions in siblings of probands in the present study (19.9%) to the incidence in the general population (2.9%), i.e., 6.85, was rather close to the expected ratio of 5.87 from the multifactorial inheritance system. (2) The incidence in siblings tended to be higher when either or both of their parents had a history of febrile convulsions. In 2-child families where the first child was affected, the incidence in the second child tended to increase in parallel with the increasing incidence in parents. (3) The incidence in siblings was higher if probands were males. (4) The heritability, when estimated by Falconer's procedure, was as high as 76%, showing that febrile convulsions are strongly genetically predisposed. These findings were more distinctly observed in the simple type than in the complicated type.
对307名被归类为简单型(131名儿童)和复杂型(176名儿童)的热性惊厥先证者进行了基因分析。热性惊厥存在家族聚集倾向,提示有遗传因素参与。多因素遗传模式与观察结果最为相符。(1)本研究中先证者的兄弟姐妹中热性惊厥的发病率(19.9%)与一般人群中的发病率(2.9%)之比,即6.85,相当接近多因素遗传系统预期的5.87之比。(2)如果其父母一方或双方有热性惊厥病史,其兄弟姐妹中的发病率往往较高。在第一个孩子患病的二孩家庭中,第二个孩子的发病率往往随着父母发病率的增加而平行上升。(3)如果先证者为男性,其兄弟姐妹中的发病率较高。(4)通过Falconer方法估计时,遗传度高达76%,表明热性惊厥有很强的遗传易感性。这些发现在简单型中比在复杂型中观察得更明显。