Article
Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.
Neuromolecular medicine - 1 Jun 2013
Cregg Roman, Laguda Bisola, Werdehausen Robert, Cox James J, Linley John E, Ramirez Juan D, Bodi Istvan, Markiewicz Michael, Howell Kevin J, Chen Ya-Chun, Agnew Karen, Houlden Henry, Lunn Michael P, Bennett David L H, Wood John N, Kinali Maria
Abstract excerpt
We identified and clinically investigated two patients with primary erythromelalgia mutations (PEM), which are the first reported to map to the fourth domain of Nav1.7 (DIV). The identified mutations (A1746G and W1538R) were cloned and transfected to cell cultures followed by electrophysiological...
Topics
- Action Potentials
- Age of Onset
- Amino Acid Sequence
- Analgesics
- Child, Preschool
- Erythromelalgia
- Female
- HEK293 Cells
- Humans
- Ion Transport
- Middle Aged