Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.
Maen D Abou ZikiS B SeidelmannE SmithG AtteyaY JiangR G FernandesM A MariebJ G AkarA ManiPublished in: Clinical genetics (2017)
Our findings implicate SCN10A in LQT. The presence of frameshift mutations suggests loss-of-function as the underlying disease mechanism. The common association with atrial fibrillation suggests a unique mechanism of disease for this LQT gene.