儿童良性癫痫伴中央颞区棘波的遗传学研究进展

The genetic research progress in benign childhood epilepsy with centro-temporal spikes

儿童良性癫痫伴中央颞区棘波是儿童时期最常见的癫痢综合征，临床以局部性发作为主，常表现为面部抽搐、喉中痰鸣、流涎、言语不能和肢体抽动等，发作多出现在睡眠期，以非快动眼睡眠期最多。脑电图的特征性表现是中央颞区局灶性棘波放电。虽然该病的发病机制目前尚不清楚，但普遍认为遗传因素在该病的发生中起着非常重要的作用。该文将就近年来儿童良性癫痫伴中央颞区棘波在临床遗传学、细胞遗传和分子遗传学领域的研究进展综述如下。

Benign epilepsy with centro-temporal spikes（BEC;F） is the most common epilepsy syndrome in childhood. The seizures are manifested with facial jerking and twitching to guttural noises, salivating with ina bility to speak and twitched limbs. The episode is proved to be closely associated with sleep, especially the nonrapid eye movement period. Centrotemporal spikes are the hallmark of the syndrome of BECT. Although the pathogenesis of BECT is still unknown,it is generally acknowledged that hereditary features play a critical role in the occurrence of BECT. In this article we are going to summarize the progresses of BECT in the fields of clini- cal genetics, cytogenetics and molecular genetics.