Fabisiak K, Erickson R P
Department of Pediatrics, University of Michigan School of Medicine, Ann Arbor.
Clin Genet. 1990 Nov;38(5):353-8. doi: 10.1111/j.1399-0004.1990.tb03594.x.
An unusual pedigree of female-limited seizures with or without mental retardation is updated. The disorder was first detected in a large cohort of women whose fathers were brothers, and affected women had previously transmitted the disorder. Four brothers of affected females have now had five unaffected daughters while four affected women have had four affected and one unaffected daughters and two unaffected sons. This unusual transmission pattern is discussed in terms of germ-line imprinting, neuronal sexual differentiation, and the generally higher risk of seizures seen when the mother, rather than the father, is affected.
一个关于女性局限性癫痫伴或不伴智力迟钝的不寻常家系得到更新。该病症最初在一大群父亲为兄弟的女性中被发现，且患病女性此前已将该病症遗传下去。患病女性的四个兄弟现在有五个未患病的女儿，而四个患病女性有四个患病女儿和一个未患病女儿以及两个未患病儿子。从种系印记、神经元性别分化以及母亲而非父亲患病时癫痫发作风险通常更高的角度讨论了这种不寻常的遗传模式。
