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Neuronal survival in epilepsy: to die or not to die?

机译:癫痫的神经元生存:要死还是不死?

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摘要

Epilepsy is a chronic neurological condition characterized by recurrent and unprovoked seizures, affecting 1% of people worldwide. Historically, epilepsy was called the "sacred disease" because people thought that epileptic seizures were a form of attack by demons, and that the visions epileptics experienced were sent by the Gods (Riggs and Riggs 2005). Epilepsy can have many causes, including brain injury, poisoning, head trauma, or stroke; and these factors are not restricted to any age group, sex, or race and neither is epilepsy. Moreover, genetic factors are known to play a major role in many epileptic forms, accounting for 40% of all epilepsies (Annegers et al 1996). A small proportion of epilepsy subtypes are inherited as single-gene ('Mendelian') traits. In the remaining cases, the etiology is complex, arising from the contribution of multiple genetic and non-genetic factors. The rapidly expanding and exciting discoveries in epilepsy genetics in the last ten years are the key for unraveling the basic mechanisms of seizure disorders and predicting what lies ahead for patients. Currently, more than twenty five genes have been identified to cause epilepsy in human, primarily the monogenic forms (tables 1 and 2). However, the genetic architecture of some of these Mendelian forms can explain the complexities of the common epilepsies (Delgado-Escueta et al 2003). Beyond genetics, we are finally looking at what these mutations do in cellular, animal and human models by developing sophisticated in vitro and in vivo functional validation assays. Such approaches link epilepsy genes to both anti- and pro-apoptotic functions. This note introduces the cellular functions of a few epilepsy genes and discusses a unifying model for epileptogenesis.
机译:癫痫病是一种慢性神经系统疾病,其特征是反复发作和无故发作,影响全世界1%的人。在历史上,癫痫病被称为“神圣疾病”,因为人们认为癫痫病发作是恶魔的一种攻击方式,癫痫病患者经历的异象是由众神发出的(Riggs and Riggs 2005)。癫痫病可能有多种原因,包括脑损伤,中毒,头部外伤或中风。这些因素并不局限于任何年龄段,性别或种族,也不是癫痫病。而且,已知遗传因素在许多癫痫病形式中起主要作用,占所有癫痫病的40%(Annegers等1996)。一小部分的癫痫亚型被遗传为单基因(“孟德尔”)特征。在其余情况下,病因复杂,是由于多种遗传和非遗传因素的影响。过去十年来,癫痫遗传学领域迅速发展且令人兴奋的发现是阐明癫痫发作的基本机制并预测患者未来情况的关键。目前,已鉴定出超过25个基因引起人类癫痫,主要是单基因形式(表1和2)。但是,其中一些孟德尔形式的遗传结构可以解释常见癫痫病的复杂性(Delgado-Escueta等,2003)。除了遗传学之外,我们最终还将通过开发复杂的体外和体内功能验证方法来研究这些突变在细胞,动物和人类模型中的作用。这种方法将癫痫基因与抗凋亡和促凋亡功能联系在一起。本说明介绍了一些癫痫基因的细胞功能,并讨论了癫痫发生的统一模型。

著录项

  • 来源
    《Journal of Biosciences》 |2005年第5期|p.561-566|共6页
  • 作者单位

    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208 016, India;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 生物科学;
  • 关键词

  • 入库时间 2022-08-17 23:37:31

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