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

Matthew Alsaloum | Zendy; Julie I. R. Labau | Zendy; Daniel Sosniak | Zendy; Peng Zhao | Zendy; Rowida Almomani | Zendy; Monique M. Gerrits | Zendy; Janneke G. J. Hoeijmakers | Zendy; Giuseppe Lauria | Zendy; Catharina G. Faber | Zendy; Stephen G. Waxman | Zendy; Sulayman D. DibHajj | Zendy

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A 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.

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