婴儿痉挛是难治性癫综合征中的一种类型,以特殊的强直阵挛发作、脑电图示高峰节律紊乱和多数伴有精神发育迟滞为特点。目前病因尚不明确,最近研究发现,无芒相关同源基因、细胞周期蛋白依赖激酶样5基因/丝氨酸/苏氨酸激酶9基因、膜关联鸟苷酸激酶2基因等基因的突变及染色体结构异常与本病关系密切。现阐述近年来该病的分子遗传学研究进展。 Infantile spasms are a type of refractory epilepsy syndrome characterized by a particular tonic-clonic seizure, a peak rhythm disorder of the electroencephalogram and most with mental retardation. The etiology is not clear at present, and recent studies have found that the mutations and chromosome structures of the genes related to C. amarei, cyclin-dependent kinase 5-like gene / serine / threonine kinase 9, membrane associated guanylate kinase 2 Abnormal and the disease is closely related. Now describes the progress of molecular genetics in the disease in recent years.