Role of common and rare variants in <i>SCN10A</i>: results from the Brugada syndrome QRS locus gene discovery collaborative study

Abstract

Rare variants in the screened QRS-associated genes (including SCN10A) are not responsible for a significant proportion of SCN5A mutation negative BrS. The common SNP SCN10A V1073 was strongly associated with BrS and demonstrated loss of NaV1.8 function, as did rare variants in isolated patients.