|
|||||
|
|
| 婴儿痉挛的分子遗传学研究进展 | |
| 引用本文： | 薛宁,王纪文. 婴儿痉挛的分子遗传学研究进展[J]. 实用儿科临床杂志, 2010, 0(4) |
| 作者姓名： | 薛宁 王纪文 |
| 作者单位： | 山东大学齐鲁医院儿童医疗中心神经科; |
| 摘 要： | 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。 |
| 关 键 词： | 癫 基因 突变 |
Study Progress of Infantile Spasms in Molecular Genetics |
|
| XUE Ning,WANG Ji-wen. Study Progress of Infantile Spasms in Molecular Genetics[J]. Journal of Applied Clinical Pediatrics, 2010, 0(4) | |
| Authors: | XUE Ning WANG Ji-wen |
| Affiliation: | XUE Ning,WANG Ji-wen(Department of Neurology,Medical Center of Pediatrics,Qilu Hospital,Sh,ong University,Jinan 250012,Sh,ong Province,China) |
| Abstract: | Infantile spasms is a type of refractory epilepsy syndrome.This epilepsy syndrome is characterized by special tonic spasms,a peculiar set of electroencephalographic findings termed hypsarrhythmia,and arrest of psychomotor development in most patients.The etiology is not clearly understood.Recently,mutations of the arista less related homeobox gene(ARX),cyclin-dependent kinase-like 5(CDKL5)/se-rine/threonine kinase 9 gene(STK9),membrane associated guanylate kinase 2 gene(MAGI2),et al,and abnormal chromosome ... |
| Keywords: | epilepsy gene mutation |
| 本文献已被 CNKI 等数据库收录！ | |