期刊文献+

原钙黏蛋白19(PCDH19)基因相关癫痫研究进展

Progress of protocadherin 19 ( PCDH19 ) gene related epilepsy
收藏 分享 导出
摘要 原钙黏蛋白19(PCDH19)基因相关癫痫是一种特殊X连锁遗传疾病,女性和嵌合体男性受累,男性半合子不受累。近年来,有关PCDH19基因相关癫痫的报道逐渐增多,PCDH19基因已成为重要的癫痫致病基因之一。现对PCDH19基因及蛋白结构功能,PCDH19基因相关癫痫的遗传方式、致病机制、临床特点、治疗及基因型-表型相关性的研究进展进行综述。 PCDH19 gene related epilepsy is an unusual X -linked disease that females and mosaic males are affected,while hemizygous males are not. Recently, the number of reports about PCDH19 gene related epilepsy is in- creasing,and PCDH19 gene has become one of the most important epilepsy genes. Now, the structure and function of PCDH19 gene and protein, the inheritance and pathogenesis, clinical features, treatment and genotype/phenotype asso- ciated with PCDH19 gene related epilepsy,were reviewed.
作者 刘爱杰 张月华 Liu Aijie, Zhang Yuehua (Department of Pedhttrics ,Peking University First Hospital ,Beijing 100034, China)
出处 《中华实用儿科临床杂志》 CSCD 北大核心 2017年第24期1908-1911,共4页 Journal of Applied Clinical Pediatrics
基金 国家自然科学基金(81171221)
关键词 原钙黏蛋白19基因 突变 治疗 Protocadherin 19 gene Mutation Treatment
作者简介 通信作者:张月华,Email:zhangyhdr@126.com
  • 相关文献

参考文献4

二级参考文献69

  • 1Perl D P. Neuropathology of Alzheimer' s disease [ J]. M1 Sinai J Med, 2010 , 77(1) :32-42. 被引量:1
  • 2Reitz C, Mayeux R. Alzhei.mer disease: epidemiology, diagnostic criteria, risk factors and biomarkers [ J ]. Biochem Phannacol, 2014, 88(4):640-651. 被引量:1
  • 3Melcangi R C, Panziea G C. Allopregnanolone: state of the art [J]. Prog Neurobiol, 2014, 113:1-5. 被引量:1
  • 4Rupprecht R, Papadopoulos V, Rammes G, et al. Translocator protein ( 18 kDa) (TSPO) as a therapeutic target for nem'ologieal and psychiatric disorders [ J ]. Nat Rev Drug Discov, 2010, 9(12) :971-988. 被引量:1
  • 5Schumacher M, Mattern C, Ghoumari A, et al. Revisi- ting the roles of progesterone and allopregnanolone in the nervous system: resurgence of the progesterone receptors [J]. Prog Neurobiol, 2014, 113:6-39. 被引量:1
  • 6Hosie A M, Wilkins M E, da Silva H M, et al. Endog- enous neurosteroids regulate GABAA receptors through two discrete transmembrane sites [ J]. Nature, 2006, 444(7118) :486-489. 被引量:1
  • 7Pinna G, Uzunova V, Matsumoto K, et al. Brain allo-pregnanolone regulates the potency of the GABA(A) re- ceptor agonist muscimol [ J ]. Nempharmacology, 2000, 39 ( 3 ) :440-448. 被引量:1
  • 8Gnidotti A, Dong E, Matsumoto K, et al. The socially- isolated mouse: a model to study the putative role of al- lopregnanolone and 5alpha-dihydroprogesterone in psy- chiatric disorders [ J]. Brain Res Brain Res Rev, 2001, 37(1-3) :110-115. 被引量:1
  • 9Singh A, Kumar A. Possible GABAcrgic modalatiotl in the protective effect of allopregnanolone on sleep depri- vation-induced anxiety-like behavior and oxidative dam- age in mice [ J ]. Methods Find Exp Clin Pharmacol 2008,30(9) :681-689. 被引量:1
  • 10Naylor J C, Kilts J D, Hulettc C M, et al. Allopregnan- olone levels are reduced in temporal cortex in patients with Alzhcimer "s disease compm'ed to cognitively intact control subjects [J]. Biochim Biophys Acta, 2010, 1801(8) :951-959. 被引量:1

共引文献10

投稿分析

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 意见反馈