|
rs1131691776
|
|
PAROXYSMAL EXTREME PAIN DISORDER
|
|
0.810 |
GeneticVariation
|
BEFREE |
The novel p.L1612P Nav1.7 mutation expands the PEPD spectrum with a unique combination of clinical symptoms and electrophysiological properties.
|
25285947 |
2015 |
|
rs1131691776
|
|
PAROXYSMAL EXTREME PAIN DISORDER
|
|
0.810 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs1131691776
|
|
PAROXYSMAL EXTREME PAIN DISORDER
|
G |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs7587026
|
|
Mesial temporal lobe epilepsy with hippocampal sclerosis
|
A |
0.810 |
GeneticVariation
|
GWASCAT |
Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59].
|
24014518 |
2013 |
|
rs7587026
|
|
Mesial temporal lobe epilepsy with hippocampal sclerosis
|
A |
0.810 |
GeneticVariation
|
GWASDB |
Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59].
|
24014518 |
2013 |
|
rs7587026
|
|
Mesial temporal lobe epilepsy with hippocampal sclerosis
|
|
0.810 |
GeneticVariation
|
BEFREE |
Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59].
|
24014518 |
2013 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.
|
24311784 |
2014 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
BEFREE |
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.
|
24866741 |
2014 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
|
19369487 |
2009 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
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 disorders.
|
18945915 |
2008 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.
|
16392115 |
2006 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.
|
16988069 |
2006 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.
|
16702558 |
2006 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
|
15958509 |
2005 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.
|
16216943 |
2005 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
|
15955112 |
2005 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.
|
15385606 |
2004 |
|
rs80356476
|
|
Primary Erythermalgia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
|
14985375 |
2004 |
|
rs80356476
|
|
Primary Erythermalgia
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1057519530
|
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
rs1057519530
|
|
Early Infantile Epileptic Encephalopathy 6
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1057519533
|
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
rs1057519533
|
|
Early Infantile Epileptic Encephalopathy 6
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs121908910
|
|
PAROXYSMAL EXTREME PAIN DISORDER
|
|
0.800 |
GeneticVariation
|
UNIPROT |
p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.
|
25285947 |
2015 |
|
rs121908910
|
|
PAROXYSMAL EXTREME PAIN DISORDER
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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 disorders.
|
18945915 |
2008 |