|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
For four other families, linkage was found to chromosome 2q21-33 (GEFS+ type 2) where three genes encoding neuronal sodium channel a-subunits are located (SCN1-3A).
|
11118488 |
2000 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
|
10742094 |
2000 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
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
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
|
11524484 |
2001 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
|
11756608 |
2001 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2.
|
11254445 |
2001 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
|
11254444 |
2001 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
|
12576172 |
2003 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.
|
12535936 |
2003 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
|
12919402 |
2003 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
|
14672992 |
2003 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
|
15525788 |
2004 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
|
15087100 |
2004 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
|
16326807 |
2005 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
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 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures plus (GEFS+ type 2), severe myoclonic epilepsy of infancy (SMEI) and related conditions.
|
16210358 |
2005 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.
|
15694566 |
2005 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
|
16541393 |
2006 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.
|
16525050 |
2006 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
|
16713920 |
2006 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |