Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant pain disorder linked to a mutation in the SCN9A gene, which encodes voltage-gated sodium channel Nav1.7.
|
24817410 |
2014 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.
|
18060017 |
2007 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the sodium-channel Na<sub>v</sub> 1.7, encoded by the gene SCN9A, are known to cause pain disorders.
|
29934995 |
2018 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It remains unclear why patients with monogenic pain disorders secondary to gain-of-function SCN9a mutations benefit from a low systemic concentration of mexiletine, which does not usually induce adverse neurological side effects.
|
24866741 |
2014 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.
|
23893323 |
2014 |
Pain Disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
SCN9A is a key player in various rare monogenic pain disorders, including absence of pain or extreme pain, indicating that SCN9A is critical in human pain perception.
|
26168879 |
2015 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder (PEPD) and Primary Erythermalgia (PE).
|
20635406 |
2010 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A congenital pain syndrome in humans recently has been mapped to the Na(v)1.7 gene, SCN9A.
|
15314237 |
2004 |
Pain Disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
A direct role of sodium channels in pain has recently been confirmed by establishing a monogenic link between SCN9A, the gene which encodes sodium channel Nav1.7, and pain disorders in humans, with gain-of-function mutations causing severe pain syndromes, and loss-of-function mutations causing congenital indifference to pain.
|
20529343 |
2010 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SCN9A mutations cause pain syndromes other than IEM and PEPD.
|
21094958 |
2011 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the voltage-gated Na(V)1.7 Na(+) channel alpha1 gene SCN9A have been linked to pain disorders, such as inherited primary erythromelalgia and paroxysmal extreme pain disorder.
|
20074229 |
2010 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several mutations in the SCN9A gene encoding for Nav1.7 have been identified as important cellular substrates for different heritable pain syndromes.
|
20101409 |
2010 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Together with earlier work implicating a distinct class of functional mutations in SCN9A in a distinct inherited pain syndrome, these results point to Na(V)1.7 channels as key players in signaling nociceptive information and as a potential target for drug therapy of chronic pain.
|
17145494 |
2006 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes.
|
29500686 |
2018 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN9A produce distinct human pain syndromes.
|
30699328 |
2019 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN9A, encoding the alpha subunit of the voltage-gated sodium channel (Nav1.7), have caused severe pain disorders and congenital insensitivity to pain.
|
23006801 |
2012 |
Pain Disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We detected a low SCN9A mutation rate in patients with primary erythermalgia, suggesting that pain syndromes in the skin may have a polygenic basis.
|
18347287 |
2008 |
Pain Disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent advances in the genetics of pain and pain disorders include the discovery of the role of the sodium ion channel SCN9A in neuropathic pain as well as in inability to experience pain, and of GTP cyclohydrolase (GCH1) in setting the sensitivity to pain in normal individuals and modulating liability to chronic pain.
|
17508172 |
2007 |
Pain Disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
The gene SCN9A is responsible for three human pain disorders.
|
20212137 |
2010 |