|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.
|
27504264 |
2016 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.
|
27413160 |
2016 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.
|
23596073 |
2013 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
|
23895530 |
2013 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.
|
21698661 |
2012 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals.
|
21118538 |
2010 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
|
19763161 |
2009 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology.
|
18524793 |
2008 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).
|
17679678 |
2007 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
|
17470132 |
2007 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A stop codon mutation in SCN9A causes lack of pain sensation.
|
17597096 |
2007 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.
|
16392115 |
2006 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
An SCN9A channelopathy causes congenital inability to experience pain.
|
17167479 |
2006 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.
|
16702558 |
2006 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
|
17145499 |
2006 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
|
15958509 |
2005 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Erythromelalgia: a hereditary pain syndrome enters the molecular era.
|
15929046 |
2005 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
|
14985375 |
2004 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Small-fiber neuropathy.
|
12210380 |
2002 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons.
|
9037087 |
1997 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Idiopathic distal small fiber neuropathy.
|
8610490 |
1995 |