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儿童失神癫痫 (childhood absence epilepsy,CAE)是特发性全身性癫痫的常见类型 ,其发病机制尚不完全清楚 ,但公认遗传因素在其发病过程中起重要作用 ,目前认为其遗传方式为多基因遗传。目前 ,国外学者通过全基因组扫描和连锁分析 ,已将 CAE易感基因分别定位于染色体 8q2 4以及染色体 3p14 .2 - p12 .1,奥地利学者研究发现 CAE与位于染色体 15 q11.2 - q12γ—氨基丁酸 (GABA) A型受体亚单位β3基因 (GABRB3)关联。同时 ,人们在 CAE动物模型进行了针对儿童失神癫痫易感基因的研究 ,获得了一系列有益的提示
Childhood absence epilepsy (CAE) is a common type of idiopathic generalized epilepsy. Its pathogenesis is not yet fully understood, but genetic factors are recognized to play an important role in the pathogenesis of the disease. At present, the genetic mode is multi-gene Genetic. At present, foreign scholars have mapped CAE susceptible genes on chromosome 8q2 4 and 3p14. 2 - p12. 1, respectively, by genome-wide scanning and linkage analysis. Austrian scholars found that CAE interacts with the gene located on chromosome 15 q11.2 - q12γ-amino Butyric acid (GABA) type A receptor subunit β3 gene (GABRB3). At the same time, people in the CAE animal model for the study of children without epilepsy susceptibility gene, obtained a series of useful tips