Pettit R E, Fenichel G M
Arch Neurol. 1980 Jan;37(1):47-8. doi: 10.1001/archneur.1980.00500500077012.
Five family members in three successive generations experienced convulsions as newborns. One died during a cyanotic spell. The remaining four are developmentally and neurologically normal, although three continue to have seizure disorders as adults. No underlying inborn error of metabolism has been identified. This family appears to have a familial epilepsy beginning at birth that is transmitted as an autosomal dominant trait.
三代人中的五名家庭成员在新生儿期出现惊厥。其中一名在一次青紫发作期间死亡。其余四人在发育和神经方面正常,尽管有三人成年后仍患有癫痫症。尚未发现潜在的先天性代谢缺陷。这个家族似乎有一种从出生就开始的家族性癫痫,以常染色体显性特征遗传。