Chen Yucai, Parker William Davis, Wang Keling
University of Illinois at Chicago , Peoria, IL , USA.
Hebei Children Hospital , Shijiazhuang , China.
Front Neurol. 2014 May 9;5:45. doi: 10.3389/fneur.2014.00045. eCollection 2014.
The thalamic relay neurons, reticular thalamic nucleus, and neocortical pyramidal cells form a circuit that sustains oscillatory burst firing, and is regarded as the underlying mechanism of absence seizures. T-type calcium channels play a key role in this circuit. Here, we review the role of T-type calcium channel genes in the development of absence seizures, and emphasize gain or loss of function mutations, and other variations that alter both quantity and quality of transcripts, and methylation status of isoforms of T-type calcium channel proteins might be of equal importance in understanding the pathological mechanism of absence seizures.
丘脑中继神经元、丘脑网状核和新皮质锥体细胞形成一个维持振荡爆发式放电的回路，被认为是失神发作的潜在机制。T型钙通道在该回路中起关键作用。在此，我们综述T型钙通道基因在失神发作发展中的作用，并强调功能获得或丧失突变以及其他改变转录本数量和质量的变异，而且T型钙通道蛋白亚型的甲基化状态在理解失神发作的病理机制中可能同样重要。
