期刊
NEURON
卷 52, 期 5, 页码 767-774出版社
CELL PRESS
DOI: 10.1016/j.neuron.2006.10.006
关键词
-
资金
- Medical Research Council [G9706148, G9717869] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
- Medical Research Council [G9717869, G9706148] Funding Source: researchfish
- MRC [G9717869, G9706148] Funding Source: UKRI
Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, or OMIM 167400), is an inherited condition characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. A genome-wide linkage search followed by mutational analysis of the candidate gene SCN9A, which encodes hNaV(1.7) identified eight missense mutations in 11 families and 2 sporadic cases. Functional analysis in vitro of three of these mutant Na(V)1.7 channels revealed a reduction in fast inactivation, leading to persistent sodium current. Other mutations in SCN9A associated with more negative activation thresholds are known to cause primary erythermalgia (PE). Carbamazepine, a drug that is effective in PEPD, but not PE, showed selective block of persistent current associated with PEPD mutants, but did not affect the negative activation threshold of a PE mutant. PEPD and PE are allelic variants with distinct underlying biophysical mechanisms and represent a separate class of peripheral neuronal sodium channelopathy.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据