Article
Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect.
Channels (Austin, Tex.) - 1 Dec 2021
Le Cann Kim, Meents Jannis E, Sudha Bhagavath Eswaran Vishal, Dohrn Maike F, Bott Raya, Maier Andrea, Bialer Martin, Hautvast Petra, Erickson Andelain, Rolke Roman, Rothermel Markus, Körner Jannis, Kurth Ingo, Lampert Angelika
Abstract excerpt
Mutations in the voltage-gated sodium channel Nav1.7 are linked to human pain. The Nav1.7/N1245S variant was described before in several patients suffering from primary erythromelalgia and/or olfactory hypersensitivity. We have identified this variant in a pain patient and a patient suffering fro...
Topics
- Humans
- NAV1.7 Voltage-Gated Sodium Channel
- HEK293 Cells
- Female
- Pain
- Mutation