|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
While heterozygous variants in SCN1B have been described in families with generalized epilepsy with febrile seizures plus, Type 1, only three cases of homozygous, missense variants in SCN1B have been reported in association with autosomal recessive inheritance of a severe developmental and epileptic encephalopathy.
|
31465153 |
2019 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of Brugada syndrome.
|
27761167 |
2016 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.
|
21040232 |
2011 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
|
18464934 |
2008 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
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 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Short QT syndrome.
|
16301704 |
2005 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
|
9697698 |
1998 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
|
9697698 |
1998 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
ATRIAL FIBRILLATION, FAMILIAL, 13
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of Brugada syndrome.
|
27761167 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of Brugada syndrome.
|
27761167 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.
|
23148524 |
2012 |
|
Generalized Epilepsy with Febrile Seizures Plus
|
0.700 |
Biomarker
|
disease |
BEFREE |
According to the results obtained by statistical analyses for the six studied families and in agreement with the involvement of SCN1B gene in the GEFS+ syndrome in previous studies, SCN1B on GEFS+1 locus was considered as one of the potential candidate genes and was tested for mutations by direct sequencing.
|
21040232 |
2011 |
|
ATRIAL FIBRILLATION, FAMILIAL, 13
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.
|
19808477 |
2009 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A functional null mutation of SCN1B in a patient with Dravet syndrome.
|
19710327 |
2009 |
|
Generalized Epilepsy with Febrile Seizures Plus
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the three genes SCN1A, SCN1B and GABRG2, all encoding subunits of ion channels, have been known to cause generalized epilepsy with febrile seizures plus (GEFS+) in families of different origin.
|
17927801 |
2008 |
|
Generalized Epilepsy with Febrile Seizures Plus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
|
17020904 |
2007 |
|
Generalized Epilepsy with Febrile Seizures Plus
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in three voltage-gated sodium channel genes, SCN1A, SCN2A, and SCN1B, and two GABAA receptor subunit genes, GABRG2 and GABRD, have been identified in families with generalized epilepsy with febrile seizures plus (GEFS+).
|
16525050 |
2006 |
|
Generalized Epilepsy with Febrile Seizures Plus
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations of voltage-gated sodium channel genes SCN1A, SCN2A, and SCN1B have been identified in several types of epilepsies including generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI).
|
16806834 |
2006 |
|
Generalized Epilepsy with Febrile Seizures Plus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Refractoriness and relative refractory period (markers of transient Na(+) channel function) were significantly reduced in GEFS+ patients with established mutations in SCN1B (P < 0.05), and strength-duration time constants (dependent on persistent Na(+) conductances) were reduced.
|
15857929 |
2005 |
|
ATRIAL FIBRILLATION, FAMILIAL, 13
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Short QT syndrome.
|
16301704 |
2005 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Short QT syndrome.
|
16301704 |
2005 |
|
Generalized Epilepsy with Febrile Seizures Plus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
|
14738422 |
2004 |