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

Conclusion
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.

Source: Cardiovascular Research - May 14, 2015 Category: Cardiology Authors: Behr, E. R., Savio-Galimberti, E., Barc, J., Holst, A. G., Petropoulou, E., Prins, B. P., Jabbari, J., Torchio, M., Berthet, M., Mizusawa, Y., Yang, T., Nannenberg, E. A., Dagradi, F., Weeke, P., Bastiaenan, R., Ackerman, M. J., Haunso, S., Leenhardt, A., Tags: Ion channels and arrhythmias Source Type: research