Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

Article ID	Journal	Published Year	Pages	File Type
8660139	Heart Rhythm	2018	7 Pages	PDF

Abstract

The lack of genotype-phenotype concordance among families, combined with the high frequency of previously reported mutations in the Genome Aggregation Database browser, suggests that SCN1B is not a monogenic cause of BrS or SADS.

Keywords

SADS SCN1B Brugada syndrome Reclassification Sudden cardiac death Genotype-phenotype correlation

Related Topics

Health Sciences Medicine and Dentistry Cardiology and Cardiovascular Medicine

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Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

Authors

Belinda MBBS, PhD, Can MD, Jodie MPH, PhD, Takeshi MD, Naomasa MD, PhD, Vincent MD, PhD, Arthur A.M. MD, PhD, Ruth MBChB, MD, Mary N. MD, Christopher MBBS, PhD, MPH, FHRS, Raymond W. MBBS, PhD, FHRS, Elijah R. MA, MBBS, MD,