|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
|
15087100 |
2004 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report.
|
17129991 |
2006 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
|
12083760 |
2002 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation |
CLINVAR |
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
|
22151702 |
2012 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
|
18930999 |
2009 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
|
20431604 |
2010 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation |
CLINVAR |
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
|
21719429 |
2011 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
|
17054685 |
2006 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
|
21864321 |
2011 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.
|
18639757 |
2008 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation |
CLINVAR |
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
|
11940708 |
2002 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
Biomarker |
GENOMICS_ENGLAND |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
|
10742094 |
2000 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation |
CLINVAR |
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
|
18930999 |
2009 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
|
19522081 |
2009 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
Biomarker |
MGD |
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.
|
22914087 |
2012 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Acute encephalopathy in children with Dravet syndrome.
|
22092154 |
2012 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in GABRB3 associated with Dravet syndrome.
|
28544625 |
2017 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation |
CLINVAR |
The SCN1A gene variants and epileptic encephalopathies.
|
23884151 |
2013 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
Biomarker |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation |
UNIPROT |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation |
CLINVAR |
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
|
17054685 |
2006 |