rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.
|
27504264 |
2016 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.
|
27413160 |
2016 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Structure and function of voltage-gated sodium channels at atomic resolution.
|
24097157 |
2014 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.
|
23596073 |
2013 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
|
23895530 |
2013 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.
|
21698661 |
2012 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
|
22719002 |
2012 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.
|
21463290 |
2011 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.
|
21269283 |
2011 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals.
|
21118538 |
2010 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
|
20879882 |
2010 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
|
19763161 |
2009 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
|
19400878 |
2009 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
|
18930999 |
2009 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology.
|
18524793 |
2008 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).
|
17679678 |
2007 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A stop codon mutation in SCN9A causes lack of pain sensation.
|
17597096 |
2007 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
|
17470132 |
2007 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |
rs1553549717
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
rs1553479216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.
|
16702558 |
2006 |