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Sodium channel, voltage-gated, type I, beta

SCN1B, sodium channel beta1 subunit
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.[provided by RefSeq, Oct 2009] (from NCBI)
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Top mentioned proteins: SCN5A, HAD, SCN3B, SCN2B, CAN
Papers on SCN1B
Regulation of SCN3B/scn3b by Interleukin 2 (IL-2): IL-2 modulates SCN3B/scn3b transcript expression and increases sodium current in myocardial cells.
Tu et al., Wuhan, China. In Bmc Cardiovasc Disord, Dec 2015
METHODS: In the present study, we observed the effect of IL-2 by qRT-PCR on the transcription of ion channel genes including SCN2A, SCN3A, SCN4A, SCN5A, SCN9A, SCN10A, SCN1B, SCN2B, SCN3B, KCNN1, KCNJ5, KCNE1, KCNE2, KCNE3, KCND3, KCNQ1, KCNA5, KCNH2 and CACNA1C.
Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.
Yamagishi et al., Kanazawa, Japan. In Circ Arrhythm Electrophysiol, Oct 2015
We identified 7 rare variants in KCNA5, KCNQ1, KCNH2, SCN5A, and SCN1B genes in 8 patients: 2 of 8 probands had a family history of AF.
High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.
Antzelevitch et al., İzmir, Turkey. In Heart Rhythm, Jul 2015
Ten of these 13 genotype-positive patients (76.9%) harbored genetic variants known or suspected to cause a loss of function of cardiac sodium channel current (SCN5A, SCN10A, SCN1B, GPD1L, PKP2, and HEY2).
Regulation of SCN5A by microRNAs: miR-219 modulates SCN5A transcript expression and the effects of flecainide intoxication in mice.
Franco et al., Jaén, Spain. In Heart Rhythm, Jun 2015
BACKGROUND: The human cardiac action potential in atrial and ventricular cells is initiated by a fast-activating, fast-inactivating sodium current generated by the SCN5A/Nav1.5 channel in association with its β1/SCN1B subunit.
Genetic Causes of Generalized Epilepsies.
Helbig, Philadelphia, United States. In Semin Neurol, Jun 2015
The first decade of the 21st century was marked by progress in understanding the basic biology of generalized epilepsies including generalized/genetic epilepsies with febrile seizures plus (GEFS+) and GGE through studies of large families, discovering causative mutations in SCN1A, SCN1B, GABRG2, and GABRA1.
The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
Jespersen et al., Copenhagen, Denmark. In Heart Rhythm, Jun 2015
In total, 66 non-referred SIDS cases born in Denmark in the period of 2000-2006 were screened for genetic variants in the 8 major genes involved in the regulation of the Nav1.5 channel complex: SCN5A, SCN1B, SCN2B, SCN3B, SCN4B, GPD1L, SNTA1, and CAV3.
Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts.
Delmar et al., New York City, United States. In J Physiol, Apr 2015
Mutations or rare variants in Scn1b (encoding the β1 and β1B subunits) have been associated with various inherited arrhythmogenic syndromes, including Brugada syndrome and sudden unexpected death in patients with epilepsy.
Inherited progressive cardiac conduction disorders.
Abriel et al., Bern, Switzerland. In Curr Opin Cardiol, 2015
RECENT FINDINGS: Inherited PCCD in structurally normal hearts has been found to be linked to genetic variants in the ion channel genes SCN5A, SCN1B, SCN10A, TRPM4, and KCNK17, as well as in genes coding for cardiac connexin proteins.
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Lerche et al., Tübingen, Germany. In Nat Genet, 2014
Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy.
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.
Brugada et al., Girona, Spain. In Plos One, 2014
Twenty-eight genes were resequenced: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, and TMEM43.
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.
Giachino et al., Torino, Italy. In Sci Rep, 2013
Here we focused on the SCN1B gene, which encodes the β1-subunit of the voltage-gated sodium channel and its soluble β1b isoform.
Dravet syndrome, what is new?
Al-Baradie, Saudi Arabia. In Neurosciences (riyadh), 2013
Also, there is a rare mutation in the GABARG2 and SCN1B genes.
The sodium channel accessory subunit Navβ1 regulates neuronal excitability through modulation of repolarizing voltage-gated K⁺ channels.
Nerbonne et al., Saint Louis, United States. In J Neurosci, 2012
The results presented here identify Navbeta1 as a component of native neuronal Kv4.2-encoded I(A) channel complexes and a novel regulator of I(A) channel densities and neuronal excitability.
Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit.
Moran et al., Genova, Italy. In Biochem Biophys Res Commun, 2012
the existence of the putative disulfide bridge in the Ig-like extracellular domain of the beta1 subunit and its disruption in the epileptogenic C121W mutant was demonstrated.
Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics.
Tfelt-Hansen et al., Copenhagen, Denmark. In Can J Cardiol, 2012
Our study supports the association of SCN1Bb with BrS.
A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.
Ruben et al., Canada. In Epilepsia, 2012
Wild-type (WT) NaVbeta1 subunit is protective against increased channel excitability of seizure-causing mechanism induced by elevated temperature; protection is lost in the absence of WT beta1 subunit or with expression of beta1 (Cys121Trp) mutation.
Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.
Quattrone et al., Roma, Italy. In Childs Nerv Syst, 2012
Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus was performed
Genetic and clinical aspects of Brugada syndrome: an update.
Cervellin et al., Parma, Italy. In Adv Clin Chem, 2011
Accordingly, eight types of BS (from BS1 to BS8) have already been described, involving mutations in SCN5A, GPD1-L, CACNA1c, CACNB2b, SCN1B, KCNE3, SCN3B, and HCN4 genes.
The genetics of Dravet syndrome.
Guerrini et al., Florence, Italy. In Epilepsia, 2011
Rare mutations have been identified in the GABARG2 and SCN1B genes.
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
Mulley et al., Adelaide, Australia. In Nat Genet, 1998
We now report linkage, in another large GEFS+ family, to chromosome region 19q13.1 and identification of a mutation in the voltage-gated sodium (Na+)-channel beta1 subunit gene (SCN1B).
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