rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
|
29844171 |
2018 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
|
30144217 |
2018 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
|
26291284 |
2015 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
|
25982755 |
2015 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
|
23758435 |
2013 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
|
23360469 |
2013 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
|
20371507 |
2010 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
|
18479388 |
2008 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
|
17386050 |
2007 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.
|
17021166 |
2006 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel SCN2A mutation in family with benign familial infantile seizures.
|
16417554 |
2006 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
|
15048894 |
2004 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sodium-channel defects in benign familial neonatal-infantile seizures.
|
12243921 |
2002 |
rs121917748
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
|
11371648 |
2001 |
rs121917748
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|