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
- 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.
- 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.