SCN3A基因介绍	
	
		
			
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		凤凰
	
 
	
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			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.
 
		 
	 
		 
	
	
	
	
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