×
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
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
GeneticVariation
UNIPROT
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
11359211 2001
×
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
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
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
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
12821740 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
14504318 2003
×
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
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
×
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
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
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
16122630 2005
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
16210358 2005
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
Early Infantile Epileptic Encephalopathy 6
0.800
GeneticVariation
UNIPROT
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
16458823 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
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
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
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
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
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
17507202 2007
×
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
GeneticVariation
UNIPROT
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
18413471 2008
×
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
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
18930999 2009