Disease: Seizures ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 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
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly. 24567321 2014
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. 24747835 2014
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit. 23584539 2013
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Presence of epilepsy-associated variants in large exome databases. 23527921 2013
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit. 22425777 2012
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation. 22292491 2012
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free. 17020904 2007
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules. 14690046 2003
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 14504340 2003
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 11866477 2002
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 12011299 2002
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 12486163 2002
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit. 9461582 1998
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. 9539778 1998
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998