Gene: SCN1B

Alternate names for this Gene: ATFB13|BRGDA5|DEE52|EIEE52|GEFSP1

Gene Summary: Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.11

Description of this Gene: sodium voltage-gated channel beta subunit 1

Type of Gene: protein-coding

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.