Sandoval-Romero A, Félix-Grijalva R
Departamento de Fisiología, Biofísica y Neurociencias, Centro de Investigación y de Estudios Avanzados, Instituto Politécnico Nacional, México DF, México.
Rev Neurol. 2003;37(5):447-53.
To briefly review the most significant progress made in the fields of molecular genetics and cellular electrophysiology that have contributed to reveal that some paroxysmal disorders including epilepsy, are linked to voltage gated Ca2+ (CaV) channel abnormalities.
Recent studies showed that the gene encoding the P/Q type Ca2+ channel is altered in a number of mutant mice strains. Phenotypic alterations of these mice include cerebellar dysfunction and absence epilepsy.
These mutant mice offer a unique opportunity to elucidate the molecular, developmental, and physiological mechanisms underlying CaV channel activity in the brain, and provide the possibility to link specific CaV channel subunits to cellular disease processes, including altered excitability, synaptic signaling, and cell death.
简要回顾分子遗传学和细胞电生理学领域取得的最重要进展，这些进展有助于揭示包括癫痫在内的一些阵发性疾病与电压门控Ca2+（CaV）通道异常有关。
最近的研究表明，编码P/Q型Ca2+通道的基因在许多突变小鼠品系中发生了改变。这些小鼠的表型改变包括小脑功能障碍和失神癫痫。
这些突变小鼠为阐明大脑中CaV通道活性的分子、发育和生理机制提供了独特的机会，并提供了将特定CaV通道亚基与细胞疾病过程联系起来的可能性，包括兴奋性改变、突触信号传导和细胞死亡。
