CACNA1A基因相关神经系统疾病谱研究进展  

Advances on the spectrum of neurological diseases related to the CACNA1A gene

作　　者：刘明[1] 丁昌红[1] Liu Ming;Ding Changhong(Department of Neurology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院神经内科,北京100045

出　　处：《中华实用儿科临床杂志》2022年第10期787-790,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(82001791)。

摘　　要：CACNA1A基因编码电压门控钙通道的孔道形成蛋白, 在中枢神经系统具有重要功能, 该基因突变可导致多种神经系统疾病, 包括家族性偏瘫型偏头痛1型、脊髓小脑共济失调6型、发作性共济失调2型和婴儿早发癫痫性脑病42型, 少数患者可见上述表型的重叠。现综述总结上述疾病表型的临床特点及CACNA1A基因的变异特点。The CACNA1A gene encodes a voltage-gated calcium channel of the pore-forming protein,which has important functions in the central nervous system.The CACNA1A gene mutation can lead to a variety of neurological diseases,including familial hemiplegic migraine 1,spinocerebellar ataxia 6,episodic ataxia 2 and early infantile epileptic encephalopathy 42.Overlapping phenotypes could be observed in a small number of patients.This review summarized the clinical and genetic characteristics of the CACNA1A gene mutation.

关 键 词：偏瘫型偏头痛 脊髓小脑共济失调 发作性共济失调 癫痫性脑病 

分 类 号：R741[医药卫生—神经病学与精神病学]