Genes and epilepsy I: epilepsy and genetic alterations
Genes and epilepsy I: epilepsy and genetic alterations
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DOI：
10.1590/s0104-42302008000300023
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发表时间：
2008-06-01
期刊：
影响因子：
--
通讯作者：
Paço-Larson, Maria Luisa
中科院分区：
文献类型：
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作者：
Gitaí, Daniel L. G.;Romcy-Pereira, Rodrigo N.;Paço-Larson, Maria Luisa
介绍。癫痫是一种神经系统疾病，其特征是自发性和反复性癫痫发作，估计世界人口患病率为 2-3%。癫痫发作是阵发性和超同步电活动的结果，特别是在皮质区域，由全面的结构和神经化学功能障碍引起。该领域的最新进展集中在癫痫发生过程中涉及的分子机制。 目的。在本综述中，我们描述了与癫痫发生过程相关的主要遗传改变，并讨论了揭示单基因特发性癫痫 (MIE) 和遗传复杂性癫痫 (GCE) 分子底物的新发现。 结果和结论。连锁和关联研究表明，离子通道基因突变是MIE和GCE易感性的主要原因，此外，参与神经元迁移、糖原代谢和呼吸链的基因突变与其他涉及癫痫发作的综合征相关，因此，不同的基因类别有助于癫痫特征，癫痫相关基因家族的鉴定可以帮助我们了解神经元过度兴奋的分子机制，识别早期诊断的标志物以及这些癫痫的新治疗方法。
INTRODUCTION. Epilepsy is a neurological disorder characterized by spontaneous and recurrent seizures with an estimated prevalence of 2-3 % in the world population. Epileptic seizures are the result of paroxystic and hypersynchronous electrical activity, preferentially in cortical areas, caused by panoply of structural and neurochemical dysfunctions, Recent advances in the field have focused on the molecular mechanisms Involved in the epileptogenic process.OBJECTIVES. In the present review, we describe the main genetic alterations associated to the process of epileptogenesis and discuss the new findings that are shedding light on the molecular substrates of monogenic idiopathic epilepsies (MIE) and on genetically complex epilepsies (GCE).RESULTS AND CONCLUSION. Linkage and association studies have shown that mutations In ion channel genes are the main causes of MIE and of predisposition for GCE Moreover, mutations In genes Involved In neuronal migration, glycogen metabolism and respiratory chain are associated to other syndromes Involving seizures, Therefore, different gene classes contribute to the epileptic trait, The identification of epilepsy-related gene families can help us understand the molecular mechanisms of neuronal hyperexcitability and recognize markers of early diagnosis as well as new treatments for these epdepsies.