|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
|
10742094 |
2000 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
|
11254445 |
2001 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
|
11756608 |
2001 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
|
11524484 |
2001 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
|
12919402 |
2003 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
|
12576172 |
2003 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
|
12821740 |
2003 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
|
12566275 |
2003 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
|
14672992 |
2003 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
|
12754708 |
2003 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
|
15525788 |
2004 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
|
15087100 |
2004 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.700 |
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 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
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 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.700 |
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 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
|
17507202 |
2007 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
|
17928445 |
2007 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
|
17927801 |
2008 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
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 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
|
19522081 |
2009 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
|
19464195 |
2009 |