|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
|
22848613 |
2012 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
|
21864321 |
2011 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
|
20600615 |
2010 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
|
20831750 |
2010 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
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 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
|
20117752 |
2010 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
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 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
|
19464195 |
2009 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
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
|
0.730 |
GeneticVariation
|
disease |
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
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.
|
19332696 |
2009 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
|
18566737 |
2008 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.
|
18251839 |
2008 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
|
17927801 |
2008 |
|
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 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
|
17507202 |
2007 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
|
17928445 |
2007 |
|
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 |
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 |