×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
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
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Genotype-phenotype associations in SCN1A-related epilepsies.
21248271 2011
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
20600615 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
20550552 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
20117752 2010
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
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
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
19464195 2009
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
19339291 2009
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
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
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
18566737 2008
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.
18251839 2008
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
18413471 2008
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
17927801 2008
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
The spectrum of SCN1A-related infantile epileptic encephalopathies.
17347258 2007
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
17561957 2007
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
17507202 2007
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
17928445 2007
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.
16525050 2006
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
16326807 2005
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
A family of generalized epilepsy with febrile seizures plus type 2 -a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
15715999 2005
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.
15694566 2005
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
15525788 2004
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
12576172 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.
12535936 2003
×
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.730
GeneticVariation
UNIPROT
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
12919402 2003