Open AccessA novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy
Author(s) -
Matthew Alsaloum,
Julie I R Labau,
Daniel Sosniak,
Peng Zhao,
Rowida Almomani,
Monique M. Gerrits,
Janneke G. J. Hoeijmakers,
Giuseppe Lauria,
Catharina G. Faber,
Stephen G. Waxman,
Sulayman D. DibHajj
Publication year - 2021
Publication title -
journal of neurophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.302
H-Index - 245
eISSN - 1522-1598
pISSN - 0022-3077
DOI - 10.1152/jn.00184.2021
Subject(s) - sodium channel , dorsal root ganglion , protein subunit , mutation , neuroscience , erythromelalgia , fiber , dorsum , chemistry , sodium , microbiology and biotechnology , biology , genetics , anatomy , gene , organic chemistry
Small fiber neuropathy (SFN) often has no discernible cause, although mutations in the voltage-gated sodium channel α subunits have been implicated in some cases. We identify a patient suffering from SFN with a mutation in the auxiliary β2 subunit and no other discernible causes for SFN. Functional assessment confirms this mutation renders dorsal root ganglion neurons hyperexcitable and upregulates tetrodotoxin-sensitive sodium currents. This study strengthens a newly emerging link between sodium channel β2 subunit mutations and human pain disorders.