SCN8A

基因产物：钠离子通道α8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：家族性肌阵挛（AD）[1]；认知障碍伴或不伴小脑共济失调（AD）[2]；早发性癫痫脑病（AD）[3]；自限性家族性婴儿癫痫（AD）[4]；发育性癫痫性脑病13型（部分可表现为婴儿癫痫伴游走性局灶性发作（AD）[5]；Lennox-Gastaut综合征（AD）[6]；Dravet 综合征（AD）[7]；大田原综合征（AD）[8]）。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 31402610 (Ann Clin Transl Neurol. 2019)）

用药提醒：多数为功能增强型，对钠通阻滞剂有一定效果。

讨论版块：点击进入SCN8A基因突变讨论版块。

参考文献

1. Wagnon, J.L., et al., Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.Hum Mutat, 2018. 39(7): p. 965-969.
2. Trudeau, M.M., et al., Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.J Med Genet, 2006. 43(6): p. 527-30.
3. Ohba, C., et al., Early onset epileptic encephalopathy caused by de novo SCN8A mutations.Epilepsia, 2014. 55(7): p. 994-1000.
4. Gardella, E., et al., Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.Ann Neurol, 2016. 79(3): p. 428-36.
5. Ohba, C., et al., Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia, 2014. 55(7): p. 994-1000.
6. Mastrangelo, M., Lennox-Gastaut Syndrome: A State of the Art Review. Neuropediatrics, 2017. 48(3): p. 143-151.
7. Steel, D., et al., Dravet syndrome and its mimics: Beyond SCN1A. Epilepsia, 2017. 58(11): p. 1807-1816.
8. McTague, A., et al., The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol, 2016. 15(3): p. 304-16.