SCN1B Antibody

1. we confirm the recessive inheritance of 2 novel SCN1B mutations in 5 children from 3 families with developmental epileptic encephalopathy. The recessive inheritance and early death in these patients is consistent with the Dravet-like phenotype observed in Scn1b(-/-) mice. PMID: 28218389
2. This report provides the first genetic evidence of SCN1B mutation causing the Benign Familial Infantile Epilepsy (BFIE) phenotype. PMID: 28566192
3. Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome. PMID: 26179811
4. 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. PMID: 25998140
5. 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. PMID: 25757662
6. We also identified an SCN1B T189M variant in 2 probands with lone AF and in 1 of 250 control subjects. PMID: 26129877
7. 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 PMID: 25421039
8. data revealed SCN1Bb as a susceptibility gene responsible for LQTS PMID: 24662403
9. High SCN1B expression is associated with increased tumour growth and metastasis in breast cancer. PMID: 24729314
10. Hippocampal networks of a NaV beta1 transgenic mouse model of genetic epilepsy show enhanced excitability. PMID: 24605816
11. 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. PMID: 24561865
12. SCN1B mutation is not a common cause of Dravet syndrome. PMID: 23182416
13. results suggest that R214Q variation in SCN1Bb is a functional polymorphism that may serve as a modifier of the substrate responsible for Brugada syndrome or SIDS phenotypes PMID: 22155597
14. Our study supports the association of SCN1Bb with BrS. PMID: 22284586
15. A novel seizure-causing mechanism is suggested for NaV1.2beta1 in patients harboring mutant C121W subunit: increased channel excitability at elevated temperature. PMID: 22292491
16. SCN1B is the gene responsible in one out of six Tunisian families with febrile seizures (FS) that may contribute susceptibility for the five others. PMID: 21040232
17. This study demonstrated that SCN1B may not be related to the occurrence of benign partial epilepsy in infancy or convulsions with gastroenteritis. PMID: 21882141
18. The results suggested that beta1B p.G257R may contribute to epilepsy through a mechanism that includes intracellular retention resulting in aberrant neuronal pathfinding. PMID: 21994374
19. Enhanced tubulin polymerization reduces sarcolemmal Na(v)1.5 expression and I(Na) amplitude in a beta1-subunit-independent fashion and causes I(Na) fast and slow inactivation impairment in a beta1-subunit-dependent way PMID: 19861310
20. The IVS3+ 2996(TTA)8 allele in SCN1B commonly seen in Japanese would not be pathogenic itself but may render male, middle-aged Japanese more susceptible to Brugada syndrome PMID: 20137763
21. Mutation of the sodium channel subunit SCN1B linked again to generalized epilepsy with febrile seizures PMID: 12011299
22. Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. PMID: 12486163
23. the expression of NaCh beta1 subunit protein in astrocytes is plastic, and indicate a novel mechanism for modulation of glial function in gliosis-associated pathologies. PMID: 12677453
24. The IVS2-2A>C transition deletes AA 70-74 in the central hydrophobic core of the extracellular Ig domain, disrupting the hydrophobic interaction in the Ig-like fold & proper [beta]1 folding & causing a persistent inward Na+ current & hyperexcitability. PMID: 14504340
25. identification and characterization of a novel splicing variant; functional studies in oocytes demonstrate that the beta1B subunit increases the ionic current when coexpressed with the tetrodotoxin sensitive channel, NaV1.2 PMID: 14622265
26. Although data suggest that SCN1B activity does not directly influence membrane potential, intracellular Ca(2+) release, or proliferation in normal human pulmonary artery smooth muscle cells, its physiological functions remain unresolved. PMID: 16052353
27. Use of these Na+ channel models in simple neuron models revealed that both mutations(R85C, R85H) cause an increase in excitability but the R85H mutation was more excitable. PMID: 17604911
28. In summary, the mutant beta1 subunits essentially fail to modulate alpha subunits which could increase neuronal excitability and underlie GEFS+ pathogenesis. PMID: 17629415
29. This suggests that mutations in the SCN1B gene is not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia. PMID: 17927801
30. SCN1B mutations were not found to directly cause long QT syndrome. PMID: 18052691
31. In patient with epilepsy were carried the mutation (C121W) of SCN1B. PMID: 18093548
32. Febrile Seizure is not related to the most common mutations of SCN1B in two Tunisian families PMID: 18175077
33. SCN1B may have a role in human arrhythmia susceptibility PMID: 18464934
34. The data of this study suggested that SCN1B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation. PMID: 19710327
35. Loss of function mutations in sodium channel beta-subunits were identified in patients with atrial fibrillation and were associated with a distinctive ECG phenotype PMID: 19808477

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HGNC: 10586

OMIM: 600235

KEGG: hsa:6324

STRING: 9606.ENSP00000396915

UniGene: Hs.436646