×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
15944908 2005
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
12754708 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
19589774 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
20729507 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
14672992 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
17054684 2006
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
16713920 2006
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
27864847 2017
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
19783390 2009
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267 2016
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
12566275 2003
×
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
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
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
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
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
GeneticVariation
UNIPROT
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
17561957 2007