Suppr超能文献

癫痫与钠通道基因突变:功能获得还是功能丧失?

Epilepsy and sodium channel gene mutations: gain or loss of function?

作者信息

Yamakawa Kazuhiro

机构信息

Laboratory for Neurogenetics, RIKEN Brain Science Institute, Hirosawa 2-1, Wako-shi, Saitama 351-0198, Japan.

出版信息

Neuroreport. 2005 Jan 19;16(1):1-3. doi: 10.1097/00001756-200501190-00001.

Abstract

Mutations in voltage-gated sodium channel genes (SCN1A, SCN2A, SCN1B) have been reported to be responsible for some epilepsies. Although studying such mutations to elucidate the disease mechanisms would be indispensable for the development of effective therapies, the functional consequences of these mutations remain controversial. Here, I propose a novel hypothesis for an epileptic disease mechanism which could drive the design of further studies to understand the molecular pathology of these diseases.

摘要

据报道,电压门控钠通道基因(SCN1A、SCN2A、SCN1B)的突变是导致某些癫痫的原因。尽管研究此类突变以阐明疾病机制对于开发有效疗法必不可少,但这些突变的功能后果仍存在争议。在此,我提出了一种关于癫痫疾病机制的新假说,这可能推动进一步研究的设计,以了解这些疾病的分子病理学。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验