Ontology highlight
ABSTRACT:
SUBMITTER: Kist AM
PROVIDER: S-EPMC5012686 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Kist Andreas M AM Sagafos Dagrun D Rush Anthony M AM Neacsu Cristian C Eberhardt Esther E Schmidt Roland R Lunden Lars Kristian LK Ørstavik Kristin K Kaluza Luisa L Meents Jannis J Zhang Zhiping Z Carr Thomas Hedley TH Salter Hugh H Malinowsky David D Wollberg Patrik P Krupp Johannes J Kleggetveit Inge Petter IP Schmelz Martin M Jørum Ellen E Lampert Angelika A Namer Barbara B
PloS one 20160906 9
Gain-of-function mutations in the tetrodotoxin (TTX) sensitive voltage-gated sodium channel (Nav) Nav1.7 have been identified as a key mechanism underlying chronic pain in inherited erythromelalgia. Mutations in TTX resistant channels, such as Nav1.8 or Nav1.9, were recently connected with inherited chronic pain syndromes. Here, we investigated the effects of the p.M650K mutation in Nav1.8 in a 53 year old patient with erythromelalgia by microneurography and patch-clamp techniques. Recordings of ...[more]