SCN3A基因介绍

  • 凤凰
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SCN3A基因介绍 was created by 凤凰

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
  1. Vanoye, C.G., et al., Novel SCN3A variants associated with focal epilepsy in children.Neurobiol Dis, 2014. 62: p. 313-22.
  2. Zaman, T., et al., Mutations in SCN3A cause early infantile epileptic encephalopathy.Ann Neurol, 2018. 83(4): p. 703-717.
26 May 2022 10:00 #1

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