Villa Chiara, Combi Romina
School of Medicine and Surgery, University of Milano-Bicocca Monza, Italy.
Front Cell Neurosci. 2016 Mar 30;10:81. doi: 10.3389/fncel.2016.00081. eCollection 2016.
Potassium (K(+)) channels are expressed in almost every cells and are ubiquitous in neuronal and glial cell membranes. These channels have been implicated in different disorders, in particular in epilepsy. K(+) channel diversity depends on the presence in the human genome of a large number of genes either encoding pore-forming or accessory subunits. More than 80 genes encoding the K(+) channels were cloned and they represent the largest group of ion channels regulating the electrical activity of cells in different tissues, including the brain. It is therefore not surprising that mutations in these genes lead to K(+) channels dysfunctions linked to inherited epilepsy in humans and non-human model animals. This article reviews genetic and molecular progresses in exploring the pathogenesis of different human epilepsies, with special emphasis on the role of K(+) channels in monogenic forms.
钾离子（K⁺）通道几乎在所有细胞中都有表达，广泛存在于神经元和神经胶质细胞膜中。这些通道与多种疾病有关，尤其是癫痫。K⁺通道的多样性取决于人类基因组中大量编码孔形成亚基或辅助亚基的基因。现已克隆出80多个编码K⁺通道的基因，它们是调节包括大脑在内的不同组织中细胞电活动的最大离子通道组。因此，这些基因的突变导致人类和非人类模型动物中与遗传性癫痫相关的K⁺通道功能障碍也就不足为奇了。本文综述了在探索不同人类癫痫发病机制方面的遗传学和分子学进展，特别强调了K⁺通道在单基因形式中的作用。
