The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

C. Han, D. Vasylyev, Lawrence J. Macala, Monique M. Gerrits, Janneke G. J. Hoeijmakers, Kim Bekelaar, Sulayman D. Dib‐Hajj, Catharina G. Faber, Ingemar S. J. Merkies, S. G. Waxman

Journal of Neurology Neurosurgery & Psychiatry · 2013 · 102 citations · 31 references

Abstract

We report for the first time a mutation of NaV1.8 which impairs inactivation, in patients with painful I-SFN. Together with our earlier results, our observations indicate that an array of NaV1.8 mutations, which affect channel function in multiple ways, can contribute to the pathophysiology of painful peripheral neuropathy.

References

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