Sodium channelopathy-related small fiber neuropathy

Disease ID:867
Name:Sodium channelopathy-related small fiber neuropathy
Associated with:1 target
Database Links
Orphanet: ORPHA306577

Targets

Nav1.9
Role:  The G699R mutation hyperpolarizes activation by 10.1mV. The mutation depolarizes inactivation by 6.3mV. As expected from increased overlap between activation and inactivation (predicted window current) the mutant channels produce a current with two-fold larger non-inactivating current. DRG neurons expressing mutant channels display depolarized (4.3)mV) resting potential, lower action potential threshold, and increased frequency firing.
Mutations:  Nav1.9 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Sodium channelopathy-related small fiber neuropathy

References

Show »

1. Han C, Yang Y, de Greef BT, Hoeijmakers JG, Gerrits MM, Verhamme C, Qu J, Lauria G, Merkies IS, Faber CG et al.. (2015) The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy. Neuromolecular Med., 17 (2): 158-69. [PMID:25791876]