KCNQ3基因介绍

  • 凤凰
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KCNQ3基因介绍 was created by 凤凰

基因产物:钾离子通道(Kv7.3)。

蛋白功能:可和KCNQ2或KCNQ5结合构成M型钾离子通道。

相关疾病: 自限性家族性新生儿癫痫 (AD)[1]; 自限性家族及非家族性婴儿癫痫 (AD)[2]。 


参考文献
  1. Charlier, C., et al., A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.Nat Genet, 1998. 18(1): p. 53-5.
  2. Nardello, R., et al., Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? Epileptic Disord, 2020. 22(6): p. 807-810.
25 May 2022 18:26 #1

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