Article
p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.
Anesthesiology - 1 Feb 2015
Suter Marc R, Bhuiyan Zahurul A, Laedermann Cédric J, Kuntzer Thierry, Schaller Muriel, Stauffacher Maurice W, Roulet Eliane, Abriel Hugues, Decosterd Isabelle, Wider Christian
Abstract excerpt
BACKGROUND: Mutations in the SCN9A gene cause chronic pain and pain insensitivity syndromes. We aimed to study clinical, genetic, and electrophysiological features of paroxysmal extreme pain disorder (PEPD) caused by a novel SCN9A mutation. METHODS: Description of a 4-generation family suffering...
Topics
- Adolescent
- Adult
- Amitriptyline
- Antidepressive Agents, Tricyclic
- Cell Line
- Child
- Cold Temperature
- DNA
- Female
- Humans
- Male
- Middle Aged
- Mutation
- NAV1.7 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques