|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Anomalous enhancement of resurgent Na<sup>+</sup> currents at high temperatures by SCN9A mutations underlies the episodic heat-enhanced pain in inherited erythromelalgia.
|
31439884 |
2019 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Twenty-eight publications described erythromelalgia associated with 15 different SCN9A gene variants in 25 children.
|
30416015 |
2019 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in SCN9A gene that encodes the voltage-gated sodium channel NaV1.7 have been associated with a wide spectrum of painful syndromes in humans including inherited erythromelalgia, paroxysmal extreme pain disorder and small fibre neuropathy.
|
28235406 |
2017 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This paper describes the pattern of pain, natural history, somatosensory profile, psychosocial status and olfactory testing of 13 subjects with primary inherited erythromelalgia with mutations of SCN9A, the gene encoding Na(v)1.7.
|
26920677 |
2016 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is a case of global motor delay and erythromelalgia associated with SCN9A.
|
23893323 |
2014 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The human genetic pain conditions inherited erythromelalgia and paroxysmal extreme pain disorder were the first to be linked to gain-of-function SCN9A mutations.
|
25250524 |
2014 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We sequenced all exons of SCN9A in 19 clinically well-studied cases including 6 CIP and 13 erythromelalgia (9 with family history, 10 with small-fibre neuropathy).
|
23129781 |
2013 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An exploratory, randomized, double-blind, 2-period crossover study was conducted in 4 SCN9A mutation-proven IEM patients.
|
22035805 |
2012 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In studies on a family with inherited erythromelalgia associated with Na(V)1.7 gain-of-function mutation A863P, we identified a nonsynonymous single-nucleotide polymorphism within SCN9A in the affected proband and several unaffected family members; this polymorphism (c. 3448C&T, Single Nucleotide Polymorphisms database rs6746030, which produces the amino acid substitution rs6746030" genes_norm="6335">R1150W in human Na(V)1.7 [hNa(V)1.7]) is present in 1.1 to 12.7% of control chromosomes, depending on ethnicity.
|
20033988 |
2009 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel.
|
19549232 |
2009 |
|
Erythromelalgia
|
0.500 |
Biomarker
|
disease |
CTD_human |
Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel.
|
19549232 |
2009 |
|
Erythromelalgia
|
0.500 |
Biomarker
|
disease |
CTD_human |
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
|
19557861 |
2009 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.
|
18347287 |
2008 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade.
|
18171466 |
2008 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Inherited erythromelalgia has recently been linked to mutations in the gene SCN9A, which encodes the voltage-gated sodium channel Nav1.7.
|
17239250 |
2007 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity.
|
17430993 |
2007 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A case of inherited erythromelalgia.
|
17410110 |
2007 |
|
Erythromelalgia
|
0.500 |
Biomarker
|
disease |
CTD_human |
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
|
17145499 |
2006 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.
|
17135418 |
2006 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel mutation in a family with erythromelalgia in SCN9A, the gene that encodes the Na(v)1.7 sodium channel.
|
15958509 |
2005 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One family with autosomal dominantly inherited erythermalgia was double heterozygous for two separate SCN9A mutations.
|
15955112 |
2005 |
|
Erythromelalgia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
One family with autosomal dominantly inherited erythermalgia was double heterozygous for two separate SCN9A mutations.
|
15955112 |
2005 |
|
Erythromelalgia
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|