SCN1B

基因产物：钠离子通道β1亚基。

蛋白功能：主要在脑和心肌中表达，可与钠离子通道α亚基组成电压门控性钠通道起到调节作用；此外在脑发育的关键时期对神经元的增殖、迁移和通路确定中发挥关键作用[133]。

相关疾病：遗传性癫痫伴热性惊厥附加症（AD）[1]；Brugada综合征和非特异性心脏传导障碍[2]；家族性心房颤动（AD）[3]；Dravet 综合征（AR）[4]；癫痫伴肌阵挛-失张力发作（Doose 综合征）[5]。

突变数据库：ClinVar数据库。

讨论版块：点击进入SCN1B基因突变讨论版块。

参考文献

1. Wallace, R.H., et al., Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.Nat Genet, 1998. 19(4): p. 366-70.
2. Watanabe, H., et al., Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.J Clin Invest, 2008. 118(6): p. 2260-8.
3. Watanabe, H., et al., Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation.Circ Arrhythm Electrophysiol, 2009. 2(3): p. 268-75.
4. Ogiwara, I., et al., A homozygous mutation of voltage-gated sodium channel beta(I) gene SCN1B in a patient with Dravet syndrome.Epilepsia, 2012. 53(12): p. e200-3.
5. McTague, A., et al., The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol, 2016. 15(3): p. 304-16.