...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Trends in Neurosciences >KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy.
【24h】

KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy.

机译：KCNQ2 / KCNQ3 K +通道与癫痫的分子发病机制：对治疗的意义。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

In 1998, the discovery of two novel genes KCNQ2 and KCNQ3, mutated in a rare inherited form of epilepsy known as benign familial neonatal convulsions, for the first time enabled insight into the molecular etiology of a human idiopathic generalized epilepsy syndrome. These disease genes encode subunits of neuronal M-type K+ channels, key regulators of brain excitability. Analogies between benign familial neonatal convulsions and other channelopathies of skeletal and cardiac muscle, including periodic paralysis, myotonia and the long QT syndrome, provide clues about the nature of epilepsy-susceptibility genes and about the fundamental basis of epilepsy as an episodic disorder. It now appears that the KCNQ2/KCNQ3 K+ channels that are mutated in benign familial neonatal convulsions represent an important new target for anti-epileptic drugs. In the future, the identification of ion channel defects as predisposing factors in the common epilepsies could herald a new era of genotype-specific therapies.
机译：1998年，发现了两个新基因KCNQ2和KCNQ3，它们以罕见的遗传性癫痫病（称为良性家族性新生儿惊厥）突变，这使人们首次了解了人类特发性全身性癫痫综合征的分子病因。这些疾病基因编码神经元M型K +通道的亚基，这是大脑兴奋性的关键调节因子。良性家族性新生儿惊厥与骨骼肌和心肌的其他通道病变（包括周期性麻痹，肌强直和长QT综合征）之间的类比，为癫痫易感基因的本质以及作为癫痫病的癫痫病的基本基础提供了线索。现在看来，在良性家族性新生儿惊厥中突变的KCNQ2 / KCNQ3 K +通道代表了抗癫痫药的重要新靶标。将来，将离子通道缺陷识别为常见癫痫的诱发因素可能预示着基因型特异性疗法的新时代。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号