|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
CausalMutation |
CLINVAR |
Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain.
|
25253744 |
2014 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
GeneticVariation |
CLINVAR |
Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.
|
23149731 |
2012 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
CausalMutation |
CLINVAR |
Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.
|
21115638 |
2011 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
GeneticVariation |
CLINVAR |
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
|
19557861 |
2009 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
CausalMutation |
CLINVAR |
Two novel SCN9A mutations causing insensitivity to pain.
|
19304393 |
2009 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
GeneticVariation |
CLINVAR |
Two novel SCN9A mutations causing insensitivity to pain.
|
19304393 |
2009 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
CausalMutation |
CLINVAR |
Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.
|
18599537 |
2008 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
|
17470132 |
2007 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
GeneticVariation |
CLINVAR |
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
|
17470132 |
2007 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
CausalMutation |
CLINVAR |
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
|
17145499 |
2006 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
GeneticVariation |
CLINVAR |
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
|
17145499 |
2006 |
|
SCN1A-AS1
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
0.100 |
CausalMutation |
CLINVAR |
Immunofluorescent and ultrastructural studies of polygonal microfilament networks in respreading non-muscle cells.
|
374104 |
1979 |