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尽管近年来发现有少数非离子通道编码基因参与人类特发性癫痫(idiopathicepilepsies,IE),但更多的遗传学研究证实,离子通道在IE的遗传病理机制中起核心作用。离子通道基因突变是一些罕见类型的单基因遗传IE的常见病因,被称为通道病。但离子通道基因突变仅能解释IE的少数家系或散发病例,更大的难题来自于对复杂遗传IE的研究,它们未知的遗传模式、表型异质性和综合征亚型间不确定的遗传背景重叠限制了遗传图谱的绘制。失神癫痫是常见的IE亚型,呈复杂遗传方式。现共发现有11个基因与失神癫痫有关联,其中有4种编码神经元钙通道亚单位。因此钙通道基因是失神癫痫的重要候选基因。失神癫痫钙通道基因的遗传学研究可能是复杂遗传IE病因研究的最佳切入点,并有利于最终阐明失神癫痫的分子机制。
Although a few non-ion channel-encoding genes have been found to be involved in idiopathic sites (IE) in recent years, more genetic studies have confirmed that ion channels play a central role in the genetic pathology of IE. Ion channel gene mutations are common causes of some rare types of single-gene inherited IEs, known as channel diseases. However, ion channel gene mutations can only explain a small number of families of IE or sporadic cases, the more difficult problem comes from the study of complex genetic IE, their unknown genetic model, phenotypic heterogeneity and the subtypes of the syndromes of uncertain genetic Background overlap limits the mapping of the genetic map. Lack of epilepsy is a common IE subtype, showing a complex genetic pattern. Now found a total of 11 genes associated with absence of epilepsy, of which four encode neuronal calcium channel subunits. Therefore, calcium channel gene is an important candidate gene loss of epilepsy. The genetic study of calcium channel gene in absence of epilepsy may be the best entry point for the study of the aetiology of complex hereditary diseases and help to clarify the molecular mechanism of absence epilepsy.