Article
Painful channels.
Neuron - 7 Dec 2006
Catterall William A, Yu Frank H
Abstract excerpt
Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, OMIM 167400), is an inherited disease causing intense burning rectal, ocular, and submandibular pain and flushing. Fertleman et al. (this issue of Neuron) show that mutations in SCN9A, the gene encoding the sodium channel Na(V)1.7 channels, are responsible for this syndrome. Together with earlier work implicating a distinct...
Topics
- Humans
- Mutation
- NAV1.7 Voltage-Gated Sodium Channel
- Neuralgia
- Rectal Diseases
- Sodium Channels