睡眠相关过度运动性癫痫的研究进展

Research progress on sleep-related hypermotor epilepsy

睡眠相关过度运动性癫痫过去被命名为夜间额叶癫痫,目前发现可能起源于额叶外,与昼夜模式无关,主要表现为睡眠中刻板的过度运动性发作。这是一种相对良性的癫痫综合征,常在儿童期达到高峰,成年后通常会有所改善.现已发现多种致病基因与该病有关。本文着重对睡眠相关过度运动性癫痫的临床诊断、分子遗传学及治疗进展进行阐述。

Sleep-related hypermotor epilepsy(SHE), which used to be named nocturnal frontal lobe epilepsy, may arise from extrafrontal sites and has nothing to do with diurnal patterns, mainly characterized by rigid hypermotor seizures during sleep. This is a relatively benign epileptic syndrome, which often reaches its peak in childhood and usually improves in adulthood. A variety of pathogenic genes have been found to be associated with the disease. This article focuses on the clinical diagnosis, molecular genetics and treatment of SHE.