Functional characterization of SCN10A variants in several cases of sudden unexplained death.

08:00 EDT 29th May 2019 | BioPortfolio

Summary of "Functional characterization of SCN10A variants in several cases of sudden unexplained death."

Multiple genome-wide association studies (GWAS) and targeted gene sequencing have identified common variants in SCN10A in cases of PR and QRS duration abnormalities, atrial fibrillation and Brugada syndrome. The New York City Office of Chief Medical Examiner has now also identified five SCN10A variants of uncertain significance in six separate cases within a cohort of 330 sudden unexplained death events. The gene product of SCN10A is the Nav1.8 sodium channel. The purpose of this study was to characterize effects of these variants on Nav1.8 channel function to provide better information for the reclassification of these variants.


Journal Details

This article was published in the following journal.

Name: Forensic science international
ISSN: 1872-6283
Pages: 289-298


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