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http://purl.uniprot.org/citations/26179811http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26179811http://www.w3.org/2000/01/rdf-schema#comment"

Background

Brugada syndrome (BrS) is an inheritable cardiac disease associated with syncope, malignant ventricular arrhythmias and sudden cardiac death. The largest proportion of mutations in BrS is found in the SCN5A gene encoding the α-subunit of cardiac sodium channels (Nav1.5). Causal SCN5A mutations are present in 18-30% of BrS patients. The additional genetic diagnostic yield of variants in cardiac sodium channel β-subunits in BrS patients was explored and functional studies on 3 novel candidate variants were performed.

Methods and results

TheSCN1B-SCN4B genes were screened, which encode the 5 sodium channel β-subunits, in a SCN5A negative BrS population (n=74). Five novel variants were detected; in silico pathogenicity prediction classified 4 variants as possibly disease causing. Three variants were selected for functional study. These variants caused only limited alterations of Nav1.5 function. Next generation sequencing of a panel of 88 arrhythmia genes could not identify other major causal mutations.

Conclusions

It was hypothesized that the studied variants are not the primary cause of BrS in these patients. However, because small functional effects of these β-subunit variants can be discriminated, they might contribute to the BrS phenotype and be considered a risk factor. The existence of these risk factors can give an explanation to the reduced penetrance and variable expressivity seen in this syndrome. We therefore recommend including the SCN1-4B genes in a next generation sequencing-based gene panel."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.org/dc/terms/identifier"doi:10.1253/circj.cj-15-0164"xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Perez G."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Pagans S."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Bonduelle M."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Brugada R."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Brugada P."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Riuro H."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Tarradas A."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Breckpot K."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Van Dooren S."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Komurcu-Bayrak E."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Peeters U."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Daneels D."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Pappaert G."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Scornik F."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/author"Van Malderen S."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/name"Circ J"xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/pages"2118-2129"xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/title"Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome."xsd:string
http://purl.uniprot.org/citations/26179811http://purl.uniprot.org/core/volume"79"xsd:string
http://purl.uniprot.org/citations/26179811http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/26179811
http://purl.uniprot.org/citations/26179811http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/26179811
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