ArticleJournal of cellular and molecular medicine2018
SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.
Article in Journal of cellular and molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern.JCI insight · 2019Pooled it
- Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.International journal of molecular sciences · 2024Review
- Molecular Pathways and Animal Models of Arrhythmias.Advances in experimental medicine and biology · 2024Article
- Review
- Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease.Pediatric surgery international · 2019Article
- SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.Journal of cellular and molecular medicine · 2018Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAbnormal cardiac ion channels current, including transient outward potassium current (I
objectiveTo determine the role of mutations in the SCN1Bβ subunits in ERS.
methodsWe screened for mutations in the SCN1B genes from four families with ERS. Wild-type and mutant SCN1Bβ genes were co-expressed with wild-type KCND3 in human embryonic kidney cells (HEK293). Whole-cell patch-clamp technique and co-immunoprecipitation were used to study the electrophysiological properties and explore the underlying mechanisms.
resultsS248R and R250T mutations in SCN1Bβ were detected in 4 families' probands. Neither S248R nor R250T mutation had significant influence on the sodium channel current density (I
conclusionThe S248R and R250T mutations of SCN1Bβ gene caused gain-of-function of I
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Registered trials
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