A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.

ABSTRACT: Small fiber neuropathy (SFN) is a common condition affecting thinly myelinated Aδ and unmyelinated C fibers, often resulting in excruciating pain and dysautonomia. SFN has been associated with several conditions, but a significant number of cases have no discernible cause. Recent genetic studies have identified potentially pathogenic gain-of-function mutations in several pore-forming voltage-gated sodium channel α subunits (Na_V) in a subset of patients with SFN, but the auxiliary sodium channel β subunits have been less implicated in the development of the disease. β subunits modulate Na_V trafficking and gating, and several mutations have been linked to epilepsy and cardiac dysfunction. Recently, we provided the first evidence for the contribution of a mutation in the

SUBMITTER: Alsaloum M 

PROVIDER: S-EPMC8461825 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature