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SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

Author information

Affiliations

  • 1. Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, 5 University Street, London WC1E 6JJ, United Kingdom.
      Authors
    • Fertleman CR 1
    (1 author)

ORCIDs linked to this article

Neuron, 01 Dec 2006, 52(5):767-774
https://doi.org/10.1016/j.neuron.2006.10.006 PMID: 17145499 

A comment on this article appears in "Painful channels." Neuron. 2006 Dec 7;52(5):743-4.

Abstract 

Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, or OMIM 167400), is an inherited condition characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. A genome-wide linkage search followed by mutational analysis of the candidate gene SCN9A, which encodes hNa(v)1.7, identified eight missense mutations in 11 families and 2 sporadic cases. Functional analysis in vitro of three of these mutant Na(v)1.7 channels revealed a reduction in fast inactivation, leading to persistent sodium current. Other mutations in SCN9A associated with more negative activation thresholds are known to cause primary erythermalgia (PE). Carbamazepine, a drug that is effective in PEPD, but not PE, showed selective block of persistent current associated with PEPD mutants, but did not affect the negative activation threshold of a PE mutant. PEPD and PE are allelic variants with distinct underlying biophysical mechanisms and represent a separate class of peripheral neuronal sodium channelopathy.

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Read article at publisher's site: https://doi.org/10.1016/j.neuron.2006.10.006

Read article for free, from open access legal sources, via Unpaywall: http://www.cell.com/article/S0896627306008051/pdfUnpaywall

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Medical Research Council (2)

Wellcome Trust