Paroxysmal extreme pain disorder

Common Name(s)

Paroxysmal extreme pain disorder

Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. Onset is usually in the neonatal period or infancy ({2:Fertleman et al., 2006}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paroxysmal extreme pain disorder" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Paroxysmal extreme pain disorder" returned 7 free, full-text research articles on human participants. First 3 results:

Paroxysmal extreme pain disorder.
 

Author(s): J Beck, P Cramp, J Noden

Journal: Br J Anaesth. 2013 May;110(5):850-1.

 

Last Updated: 19 Apr 2013

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Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.
 

Author(s): Jonathan W Theile, Brian W Jarecki, Andrew D Piekarz, Theodore R Cummins

Journal: J. Physiol. (Lond.). 2011 Feb;589(Pt 3):597-608.

 

Abnormal pain sensitivity associated with inherited and acquired pain disorders occurs through increased excitability of peripheral sensory neurons in part due to changes in the properties of voltage-gated sodium channels (Navs). Resurgent sodium currents (I(NaR)) are atypical currents ...

Last Updated: 2 Feb 2011

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NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.
 

Author(s): M Estacion, S D Dib-Hajj, P J Benke, Rene H M Te Morsche, E M Eastman, L J Macala, J P H Drenth, S G Waxman

Journal: J. Neurosci.. 2008 Oct;28(43):11079-88.

 

Gain-of-function mutations of Na(V)1.7 have been shown to produce two distinct disorders: Na(V)1.7 mutations that enhance activation produce inherited erythromelalgia (IEM), characterized by burning pain in the extremities; Na(V)1.7 mutations that impair inactivation produce a different, ...

Last Updated: 23 Oct 2008

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Reviews from the PubMed Database

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The terms "Paroxysmal extreme pain disorder" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.