Article
Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.
The Journal of physiology - 1 Sept 2008
Jarecki Brian W, Sheets Patrick L, Jackson James O, Cummins Theodore R
Abstract excerpt
Single-point missense mutations in the peripheral neuronal voltage-gated sodium channel Nav1.7 are implicated in the painful inherited neuropathy paroxysmal extreme pain disorder (PEPD). The Nav1.7 PEPD mutations are located in regions of the channel suggested to play important roles in fast inac...
Topics
- Action Potentials
- Adult
- Amino Acid Sequence
- Cell Line
- Humans
- Ion Channel Gating
- Molecular Sequence Data
- Mutation
- NAV1.7 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques
- Sodium Channels
- Somatoform Disorders
- Tetrodotoxin