A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy

Adi T, Estacion M, Schulman BR, Vernino S, Dib-Hajj S, Waxman S.

Mol Pain, 2018

Summary:

Explore how Maestro technology was used to demonstrate the presence of a novel gain-of-function variant of Na_v1.7 in a patient with adult-onset painful peripheral neuropathy, and to gauge the responsiveness of that patient to treatment. 

Keywords: DRG, dorsal root ganglion, pain, carbamazepine