论文部分内容阅读
电压依赖性离子通道病变是发育中及成熟大脑癫痫发作的病因。两种人类癫痫综合征良性家族性惊厥(BNFC)和高热惊厥 (GEFS + )都与离子通道的病变有关 ,前者与钾通道病变有关 ,后者与钠通道病变有关。一些新发现的癫痫综合征的染色体定位也是在富含离子通道基因序列的区域。基因突变小鼠的研究表明 ,由于不同离子通道对神经元兴奋的作用不同 ,不同通道的突变可导致不同癫痫类型
Voltage-dependent ion channel pathology is a cause of epileptic seizures in both developing and mature brain. Both human epilepsy syndrome benign familial convulsions (BNFC) and febrile seizures (GEFS +) are related to the pathological changes of ion channels, the former is related to the pathological changes of potassium channel, and the latter is related to the pathological changes of sodium channel. The chromosomal location of some of the newly discovered epilepsy syndromes is also in the region that is rich in ion channel gene sequences. Studies in genetically-challenged mice have shown that, due to the difference in excitatory effects of different ion channels on neurons, mutations in different pathways can lead to different types of epilepsy