Property Summary

NCBI Gene PubMed Count 59
Grant Count 29
R01 Count 14
Funding $2,689,611.97
PubMed Score 43.53
PubTator Score 62.52

Knowledge Summary

Patent (1,549)

Expression

Gene RIF (42)

PMID Text
26179811 Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome.
26129877 We also identified an SCN1B T189M variant in 2 probands with lone AF and in 1 of 250 control subjects.
25998140 SCN1B gene mutations that reduce sodium channel current may provide a mechanistic link between Atrioventricular nodal reentrant tachycardia and Brugada syndrome and predispose to expression of both phenotypes.
25757662 In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
25421039 Study showed that the human SCN1B C121W epilepsy mutation leads to decreased axon initial segments expression of SCN1B in heterozygous CW mice and a complete lack of SCN1B in homozygous WW mice
24729314 High SCN1B expression is associated with increased tumour growth and metastasis in breast cancer.
24662403 data revealed SCN1Bb as a susceptibility gene responsible for LQTS
24605816 Hippocampal networks of a NaV beta1 transgenic mouse model of genetic epilepsy show enhanced excitability.
24561865 experimental data indicate that sodium channel voltage-gated type I beta subunit (Navbeta1b)/H162P results in reduced sodium channel activity functionally affecting the ventricular action potential.
24337656 sodium channel polymorphisms are associated with epilepsy
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AA Sequence

MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFRQKGTEEFVKI      1 - 70
LRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVK     71 - 140
KIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIYCYKKIAAATETAAQENASEYLAITSESKEN    141 - 210
CTGVQVAE                                                                  211 - 218
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Text Mined References (62)

PMID Year Title
26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
26179811 2015 Contribution of Cardiac Sodium Channel ?-Subunit Variants to Brugada Syndrome.
26129877 2015 Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.
25998140 2015 High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.
25757662 2015 The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
25421039 2015 Sodium channel ?1 subunit localizes to axon initial segments of excitatory and inhibitory neurons and shows regional heterogeneity in mouse brain.
24729314 2014 The sodium channel ?1 subunit mediates outgrowth of neurite-like processes on breast cancer cells and promotes tumour growth and metastasis.
24662403 2014 A missense mutation in the sodium channel ?1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome.
24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
24605816 2014 Enhanced in vitro CA1 network activity in a sodium channel ?1(C121W) subunit model of genetic epilepsy.
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