基因产物:肌球蛋白1。
蛋白功能:属于微管相关蛋白,在皮质发育过程中调节细胞分裂和神经元迁移[1]。
相关疾病:
青少年失神癫痫
(易感基因)[2],
青少年肌阵挛癫痫
(易感基因)[3]。
参考文献
- de Nijs, L., et al., EFHC1 interacts with microtubules to regulate cell division and cortical development.Nat Neurosci, 2009. 12(10): p. 1266-74.
- Stogmann, E., et al., Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.Neurology, 2006. 67(11): p. 2029-31.
- Medina, M.T., et al., Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.Neurology, 2008. 70(22 Pt 2): p. 2137-44.