Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of disease-causing genes. The impact of these genetic discoveries is wide reaching—from precise diagnosis and classification of syndromes to the discovery and validation of new drug targets and the development of disease-targeted therapeutic strategies. About 25% of genes identified in epilepsy encode ion channels. Much of our understanding of disease mechanisms comes from work focused on this class of protein. In this study, we review the genetic, molecular, and physiologic evidence supporting the pathogenic role of a number of different voltage- and ligand-activated ion channels in genetic epilepsy. We also review proposed disease mechanisms for each ion channel and highlight targeted therapeutic strategies.

中文翻译：

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遗传性癫痫中的离子通道：从基因和机制到针对疾病的疗法

癫痫病是一种常见且严重的神经系统疾病，具有很强的遗传成分。遗传研究已经确定了越来越多的致病基因。这些遗传发现的影响是广泛的，从对症候群的精确诊断和分类，到发现和验证新药靶标以及制定针对疾病的治疗策略，都具有广泛的意义。在癫痫病中鉴定出的基因中，约有25％编码离子通道。我们对疾病机制的大部分理解来自专注于此类蛋白质的工作。在这项研究中，我们审查了遗传，分子和生理学证据，这些证据支持遗传癫痫病中许多不同的电压和配体激活离子通道的致病作用。