期刊文献+

遗传性癫的研究

Studies of Genetic Epilepsy
原文传递
导出
摘要 遗传性癫是常见病,是国内外研究的重点及难点之一。以遗传性癫及癫综合征的致病基因、临床表现、脑电图特点、治疗及预后等方面的研究进行综述。 Genetic epilepsy is a common disease, which is also a challenging topic in current medical research. The research of inherited epilepsy and epilepsy syndrome in respectes of pathogenic genes, clinical manifestation, the feature of electroencephalogram (EEG), the treatments, prognosis were reviwed.
作者 陈青 张敬军
出处 《中国临床神经科学》 2014年第1期108-116,共9页 Chinese Journal of Clinical Neurosciences
基金 山东省自然基金项目(编号:ZR2011HL008) 山东省卫生厅课题(编号:2011HD017)
关键词 遗传性癫(癎) 病因 临床表现 治疗 genetic epilepsy cause clinical manifestations treatment
  • 相关文献

参考文献1

二级参考文献9

  • 1Ottman R, Risch N, Hauser WA, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet, 1995,10: 56-60.
  • 2Engel J Jr, International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia, 2001,42: 796-803.
  • 3Michelucci R, Poza JJ, Sofia V, et al. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia, 2003, 44: 1289-1297.
  • 4Chemova OB, Somerville RPT, Cowell JK. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. Oncogene,1998, 17: 2873-2881.
  • 5Kunapuli P, Chitta KS, Cowell JK. Suppression of the cell proliferation and invasion phenotypes in glioma cells by the LGI1 gene. Oncogene,2003, 22:3985-3991.
  • 6Kunapuli P, Kasyapa CS, Hawthom L, et al. LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway. J Biol Chem,2004,279:23151-23157.
  • 7Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet ,2002,30:335-341.
  • 8Fukata Y, Adesnik H, Iwanaga T, et al. Epilepsy-related ligand/ receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science,2006,313 : 1792-1795.
  • 9Schulte U, Thumfart JO, Klocker N, et al. The epilepsy-linked Lgil protein assembles into presynaptic Kvl channels and inhibits inactivation by Kvbetal. Neuron ,2006 ,49:697-706.

共引文献4

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部