PAROXYSMAL EXTREME PAIN DISORDER

Known as: PEPD, PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING, Submandibular, Ocular, and Rectal Pain with Flushing 
A very rare, autosomal dominant inherited disorder caused by mutations in the SCN9A gene. It is characterized by skin redness and flushing and… (More)
National Institutes of Health

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6 relations
Autosomal dominant inheritanceBradycardiaSCN9A geneTachycardia

Broader (2)

PainRectum

Papers overview

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2011
2011
Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons
Background A 3-month-old male infant presented, beginning on the second day of life, with paroxysmal painful events that started… (More)
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2011
2011
Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.
Abnormal pain sensitivity associated with inherited and acquired pain disorders occurs through increased excitability of… (More)
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Highly Cited
2011
Highly Cited
2011
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians
We conducted a three-stage genetic study to identify susceptibility loci for type 2 diabetes (T2D) in east Asian populations. We… (More)
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Highly Cited
2010
Highly Cited
2010
Pain perception is altered by a nucleotide polymorphism in SCN9A.
The gene SCN9A is responsible for three human pain disorders. Nonsense mutations cause a complete absence of pain, whereas… (More)
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Highly Cited
2008
Highly Cited
2008
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…
Gain-of-function mutations of Na(V)1.7 have been shown to produce two distinct disorders: Na(V)1.7 mutations that enhance… (More)
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Highly Cited
2008
Highly Cited
2008
Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable
BACKGROUND Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant painful neuropathy with many, but not all, cases… (More)
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2008
2008
Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.
Single-point missense mutations in the peripheral neuronal voltage-gated sodium channel Nav1.7 are implicated in the painful… (More)
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Highly Cited
2007
Highly Cited
2007
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).
OBJECTIVE To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome… (More)
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Highly Cited
2006
Highly Cited
2006
SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes
Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, or OMIM 167400), is an inherited… (More)
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Highly Cited
1981
Highly Cited
1981
ALDEHYDE DEHYDROGENASE DEFICIENCY AS CAUSE OF FACIAL FLUSHING REACTION TO ALCOHOL IN JAPANESE
A dehydrogenase is an enzyme responsible for the breakdown of acetaldehyde, a toxic intermediate1 produced directly from the… (More)
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