早发癫痫性脑病遗传学病因研究进展

Genetic studies of early infantile epileptic encephalopathy Reviewer

早发癫痫性脑病（EIEE）是一类由于频繁癫痫发作及痫性放电导致的严重脑疾病，主要特点为新生儿或婴儿早期起病，难以控制的癫痫发作及痫性放电，精神运动发育迟滞或倒退。近年来随着分子遗传学的进步，大量新的EIEE相关性基因突变被发现，使临床对EIEE的遗传学病因及病理生理机制有了更深入的理解。EIEE遗传学病因研究对了解发病机制、基因分型、个体化治疗、预后及遗传咨询具有重要意义。文章综述EIEE遗传学病因新进展。

Early infantile epileptic encephalopathy(EIEE)is a group of disorders affect children at early stages of infancy,characterized by frequent seizures,epileptiform activity on EEG,and developmental slowing or regression.With the advances ingenetic testing,an increasing number of novel genetic causes have been uncovered,the genetic etiologies and physiopathologicmechanism of these epileptic syndromes are now better understood.The purpose of this article is to summarize genetic studies ofseveral EIEEs.