SCN3A基因介绍
-
凤凰
-
Topic Author
-
Elite Member
-
基因产物:钠离子通道α3亚基。
蛋白功能:主要在脑内表达,可与钠离子通道β亚基组成电压门控性钠通道。
相关疾病:
伴可变起源灶的家族性局灶性癫痫
(AD)[141];早发性癫痫脑病[142]。
参考文献
- Vanoye, C.G., et al., Novel SCN3A variants associated with focal epilepsy in children.Neurobiol Dis, 2014. 62: p. 313-22.
- Zaman, T., et al., Mutations in SCN3A cause early infantile epileptic encephalopathy.Ann Neurol, 2018. 83(4): p. 703-717.
Please Log in or Create an account to join the conversation.
Time to create page: 0.420 seconds