Variant: rs104894718 

    present in Gene: SCN1B
    present in Chromosome: 19
    Position on Chromosome: 35033654
    Alleles of this Variant: C/A;G;T

rs104894718 in SCN1B gene and Brugada Syndrome 5 PMID 17020904 2007 Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

PMID 5421039 1970 Arthroplasty of the temporomandibular joint.

PMID 9697698 1998 Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

PMID 27277800 2016 β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function.

PMID 12011299 2002 Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

PMID 28331474 2019 Sodium Channel β Subunits in Epilepsy: Location, Location, Location.

rs104894718 in SCN1B gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 PMID 21040232 2011 New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.

PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

PMID 9697698 1998 Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

rs104894718 in SCN1B gene and Seizures PMID 12486163 2002 Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.

PMID 12011299 2002 Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

PMID 9461582 1998 Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit.

PMID 23527921 2013 Presence of epilepsy-associated variants in large exome databases.

PMID 27277800 2016 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.

PMID 24567321 2014 Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly.

PMID 11866477 2002 Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation.

PMID 24747835 2014 Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.

PMID 22292491 2012 A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 23584539 2013 Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit.

PMID 9539778 1998 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.

PMID 9697698 1998 Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

PMID 22425777 2012 Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit.

PMID 14504340 2003 A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.

PMID 17020904 2007 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.

PMID 14690046 2003 Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules.