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

Papers overview

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2011
2011
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
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
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
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
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
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
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
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
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
A dehydrogenase is an enzyme responsible for the breakdown of acetaldehyde, a toxic intermediate1 produced directly from the… (More)
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