rs104894718, SCN1B

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules. 14690046 2003
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 11866477 2002
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
0.800 GeneticVariation UNIPROT Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. 17928445 2007
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit. 9461582 1998
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
0.800 GeneticVariation UNIPROT New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures. 21040232 2011
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Presence of epilepsy-associated variants in large exome databases. 23527921 2013
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. 24747835 2014
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
0.700 CausalMutation CLINVAR Sodium Channel β Subunits in Epilepsy: Location, Location, Location. 28331474 2019
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
0.700 CausalMutation CLINVAR Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 17020904 2007
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR The goal of this study was to compare mice heterozygous for Scn1b-C121W (Scn1b(+/W)) with mice heterozygous for the Scn1b-null allele (Scn1b(+/-)) to determine whether the C121W mutation results in loss-of-function in vivo We found that Scn1b(+/W) mice were more susceptible than Scn1b(+/-) and Scn1b(+/+) mice to hyperthermia-induced convulsions, a model of pediatric febrile seizures. 27277800 2016