Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. 27277800 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. 24747835 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly. 24567321 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit. 23584539 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Presence of epilepsy-associated variants in large exome databases. 23527921 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation. 22292491 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit. 22425777 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype BEFREE SCN1B is not related to benign partial epilepsy in infancy or convulsions with gastroenteritis. 21882141 2011
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype BEFREE Whereas Scn1b(-/-) mice seize spontaneously, the seizure susceptibility of Scn1b(+/-) mice was similar to wild type, suggesting that, like the parents of this patient, one functional SCN1B allele is sufficient for normal control of electrical excitability. 19710327 2009
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 17020904 2007
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE Furthermore, mutations in the voltage-gated sodium channel alpha-1, alpha-2 and beta-1 subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor gamma-2 subunit gene (GABRG2) have been identified in families with a clinical subset of seizures termed "generalized epilepsy with febrile seizure plus (GEFS+)". 16887333 2006
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules. 14690046 2003
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 14504340 2003
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 12011299 2002
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 11866477 2002
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 12486163 2002
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit. 9461582 1998
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype 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