|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
A catalog of SCN1A variants.
|
18804930 |
2009 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
A screening test for the prediction of Dravet syndrome before one year of age.
|
18076640 |
2008 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
|
27781031 |
2016 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
|
12083760 |
2002 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
|
16458823 |
2006 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
|
21864321 |
2011 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
|
28102150 |
2017 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
|
23195492 |
2012 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Silencer region of a chalcone synthase promoter contains multiple binding sites for a factor, SBF-1, closely related to GT-1.
|
1893099 |
1991 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
|
24168886 |
2014 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
|
12566275 |
2003 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
|
18930999 |
2009 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
|
28202706 |
2017 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
|
11940708 |
2002 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
|
14504318 |
2003 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
|
23195492 |
2012 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
|
14738421 |
2004 |