Peloquin Jean B, Khosravani Houman, Barr Wendy, Bladen Chris, Evans Rhian, Mezeyova Janette, Parker David, Snutch Terrance P, McRory John E, Zamponi Gerald W
Department of Physiology and Biophysics, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta.
Epilepsia. 2006 Mar;47(3):655-8. doi: 10.1111/j.1528-1167.2006.00482.x.
Childhood absence epilepsy (CAE) is an idiopathic form of seizure disorder that is believed to have a genetic basis.
We examined the biophysical consequences of seven mutations in the Ca(v)3.2 T-type calcium channel gene linked to CAE.
Of the channel variants examined, one of the mutants, a replacement of glycine 848 in the domain II-S2 region with serine, resulted in significant slowing of the time courses of both activation and inactivation across a wide range of membrane potentials. These changes are consistent with increased channel activity in response to prolonged membrane depolarizations.
Taken together, these findings suggest that such little changes in channel gating may contribute to the etiology of CAE.
儿童失神癫痫（CAE）是一种特发性癫痫障碍形式，被认为具有遗传基础。
我们研究了与CAE相关的Ca(v)3.2 T型钙通道基因中七个突变的生物物理后果。
在所检测的通道变体中，其中一个突变体，即结构域II-S2区域的甘氨酸848被丝氨酸取代，导致在广泛的膜电位范围内激活和失活的时间进程显著减慢。这些变化与延长膜去极化时通道活性增加一致。
综上所述，这些发现表明通道门控的如此微小变化可能促成了CAE的病因。
