Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Human loss or gain-of-function mutations in the gene encoding Na<sub>v</sub>1.7 channels (SCN9A) are associated with either absence of pain, as reported for congenital insensitivity to pain, or with exacerbation of pain, as reported for primary erythromelalgia and paroxysmal extreme pain disorder.
|
29166836 |
2018 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.
|
29978519 |
2018 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.
|
27747863 |
2016 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the SCN9A gene encoding voltage-gated sodium channel Nav1.7 cause congenital insensitivity to pain in humans and mice.
|
26634308 |
2015 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Complete sequencing of the SCN9A gene in a Moroccan 3-year-old child with congenital insensitivity to pain.
|
25439579 |
2014 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies in families demonstrating recessively inherited channelopathy-associated insensitivity to pain have identified nonsense mutations that result in truncation of the voltage-gated sodium channel type IX subunit (SCN9A), a 113.5-kb gene comprising coding 26 exons.
|
24188911 |
2014 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
For example, the voltage-gated sodium ion channel Nav1.7 is expressed selectively in sensory and autonomic neurons; inactivating mutations in SCN9A, which encodes Nav1.7, result in congenital insensitivity to pain, whereas gain-of-function mutations in this gene produce distinct pain syndromes such as inherited erythromelalgia, paroxysmal extreme pain disorder, and small-fibre neuropathy.
|
24813307 |
2014 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
|
23129781 |
2013 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to explore the role of a nonsynonymous single-nucleotide polymorphism, 3312G>T, in SCN9A, which was identified in probands with congenital indifference to pain, but which is also present in normal controls, in the prediction of individual baseline pain perception, and postoperative pain sensitivity in the general population.
|
23364568 |
2013 |
Congenital Pain Insensitivity
|
0.600 |
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 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCN9A gene leading to deficiency of its protein product, Na(v)1.7, cause congenital indifference to pain (CIP).
|
22035805 |
2012 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain.
|
20692858 |
2011 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
From human genetics, a small number of patients with mutations in the genes encoding nerve growth factor/TrkA signaling and in a particular sodium channel subunit (SCN9a, encoding Nav1.7) show congenital analgesia with limited other effects.
|
21455071 |
2011 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
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 |
Congenital Pain Insensitivity
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
Congenital Pain Insensitivity
|
0.600 |
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 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.
|
20628234 |
2010 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
A life without pain? Hedonists take note.
|
18070140 |
2008 |
Congenital Pain Insensitivity
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
|
17470132 |
2007 |
Congenital Pain Insensitivity
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
|
14985375 |
2004 |
Congenital Pain Insensitivity
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|