Article
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 20 May 2015
Emery Edward C, Habib Abdella M, Cox James J, Nicholas Adeline K, Gribble Fiona M, Woods C Geoffrey, Reimann Frank
Abstract excerpt
The importance of NaV1.7 (encoded by SCN9A) in the regulation of pain sensing is exemplified by the heterogeneity of clinical phenotypes associated with its mutation. Gain-of-function mutations are typically pain-causing and have been associated with inherited erythromelalgia (IEM) and paroxysmal...
Topics
- Child
- Erythromelalgia
- Female
- HEK293 Cells
- Humans
- Ion Channel Gating
- Male
- Mutation, Missense
- NAV1.7 Voltage-Gated Sodium Channel
- Pain
- Pain Insensitivity, Congenital
- Pedigree
- Phenotype
- Protein Structure, Tertiary
- Rectum