Rolandic癫痫的遗传病学研究进展

Rolandic癫痫(RE)又称儿童良性癫痫伴中央颞区棘波(BECTS),是最常见的儿童特发性癫痫综合征。既往认为,RE预后通常良好,常在青春期以前自行缓解。1982年,Aicardi和Chevrie提出RE变异型(ARE)的概念,指部分RE患儿起病初期的临床及电生理表现符合RE的特点,但在病程的演变过程中,临床和脑电图出现恶化。目前认为RE是从轻型至严重脑功能损害的连续性癫痫失语谱系疾病(EAS),常伴不同程度的认知和言语功能障碍。RE谱系疾病病因复杂,发病机制仍不完全清楚。随着分子遗传学的发展,近年发现该谱系疾病为复杂多基因遗传和环境因素共同致病,并发现多个基因与其相关。现重点关注RE谱系疾病的遗传学最新进展,从相关基因分子生物学特点、变异与RE谱系疾病的临床相关性及变异的功能学研究3个方面进行详细阐述,以帮助RE癫痫谱系疾病的临床基因报告解读和临床诊断。

Research progress in genetic studies of Rolandic epilepsy

Rolandic epilepsy(RE),also known as benign epilepsy of childhood with centrotemporal spikes(BECTS),is the most common childhood idiopathic epilepsy syndrome.In the past,RE was often thought to have a good prognosis and usually disappeared spontaneously before puberty.However,Aicardi and Chevrie proposed the concept of RE variant(ARE)in 1982,and claimed that the clinical and electrophysiological manifestations of some RE children patients were in accordance with the characteristics of RE at the early stage of onset,but the clinical and EEG deteriorated during the course of the disease.RE is now considered to be a continuous epileptic-aphasia spectrum(EAS)disorder that causes mild to severe brain damage,often accompanied by varying degrees of cognitive and speech dysfunction.The etiology of RE is complex,and its pathogenesis is still not quite clear.With the development of molecular genetics,a complex interplay between the polygenic inheritance and environment has been found contributed to the etiology of RE.In addition,many striking genes are discovered.In this review,recent gene findings associated with RE were stressed,and the molecular biological characteristics and variants of related genes(GRIN2A,KCNQ2,KCNQ3,DEPDC5,ELP4-PAX6,GABAA-R,RBFOX1/3),clinical-gene correlation and variants-function investigation were described in detail in order to help with interpretation of clinical gene report clinical diagnosis of RE.