• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies.

作者信息

Steinlein O K

机构信息

Institute for Human Genetics, University of Bonn, Germany.

出版信息

Clin Genet. 1998 Sep;54(3):169-75. doi: 10.1111/j.1399-0004.1998.tb04279.x.

DOI:10.1111/j.1399-0004.1998.tb04279.x
PMID:9788717
Abstract

For many years, idiopathic epilepsies have been known to have a strong genetic background. In most subtypes, the mode of inheritance appears to be complex, with only some rare idiopathic epilepsies being monogenic disorders. Thus far, several gene loci have been reported for the common subtypes, such as juvenile myoclonic epilepsy, but the results of linkage studies in independent samples have often been conflicting. Recently, the gene defects underlying two monogenic epilepsies, autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions, have been identified. Both diseases are caused by ion channel mutations, a similarity which may shed light on the understanding of the basic mechanisms of epileptogenesis.

摘要

相似文献

1
New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies.
Clin Genet. 1998 Sep;54(3):169-75. doi: 10.1111/j.1399-0004.1998.tb04279.x.
2
Genetics of the epilepsies.癫痫的遗传学
Curr Opin Neurol. 2004 Apr;17(2):147-53. doi: 10.1097/00019052-200404000-00011.
3
Gene defects in idiopathic epilepsy.特发性癫痫中的基因缺陷
Rev Neurol (Paris). 1999 Jul;155(6-7):450-3.
4
Genetics of idiopathic epilepsies.特发性癫痫的遗传学
Epilepsia. 2005;46 Suppl 1:38-43. doi: 10.1111/j.0013-9580.2005.461011.x.
5
[Genetic approach to the pathogeneses of epilepsy].[癫痫发病机制的遗传学研究方法]
Rinsho Shinkeigaku. 2004 Nov;44(11):975-8.
6
Pathophysiology of epilepsy.癫痫的病理生理学
Acta Neurol Belg. 2000 Dec;100(4):201-13.
7
Idiopathic epilepsies with a monogenic mode of inheritance.具有单基因遗传模式的特发性癫痫
Epilepsia. 1999;40 Suppl 3:9-11. doi: 10.1111/j.1528-1157.1999.tb00892.x.
8
[Genetic background of epilepsies].[癫痫的遗传背景]
Ideggyogy Sz. 2004 May 20;57(5-6):141-51.
9
Epilepsies with single gene inheritance.单基因遗传的癫痫症。
Brain Dev. 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5.
10
Impact of our understanding of the genetic aetiology of epilepsy.我们对癫痫遗传病因的理解所产生的影响。
J Neurol. 2000 May;247(5):327-34. doi: 10.1007/s004150050598.

引用本文的文献

1
Candidate genes for idiopathic epilepsy in four dog breeds.四个犬种特发性癫痫的候选基因。
BMC Genet. 2011 Apr 25;12:38. doi: 10.1186/1471-2156-12-38.
2
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.KCNQ2的S4区域中无电荷残基的突变导致M型钾通道的非典型门控,引发良性家族性新生儿惊厥。
J Neurosci. 2007 May 2;27(18):4919-28. doi: 10.1523/JNEUROSCI.0580-07.2007.
3
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.
特发性全身性癫痫与神经元烟碱型乙酰胆碱受体亚基多态性的关联。
J Clin Lab Anal. 2007;21(2):67-70. doi: 10.1002/jcla.20155.
4
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.在2号染色体2q24-q33区域发现热性惊厥附加症伴发的全身性癫痫(GEFS+)的一个新基因座。
Am J Hum Genet. 1999 Nov;65(5):1396-400. doi: 10.1086/302621.