SCN5A is the gene that encodes the cardiac sodium channel Na V 1.5. SCN5A is a highly conserved gene [5] located on human chromosome 3, where it spans more than 100 kb. The …

The SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. These channels open and close at specific times to control the flow of positively …

In this review, we will summarize SCN5A variants-related arrhythmia syndromes, structural cardiac disorders and the underlying potential mechanisms. Then a brief description will also …

Gain-of-function mutations in SCN5A lead to more sodium influx into cardiomyocytes through aberrant channel gating and cause long QT syndrome, a primary electrical disease of the heart.

The gene SCN5A encodes the main cardiac sodium channel Na V 1.5. This channel predominates the cardiac sodium current, INa, which underlies the fast upstroke of the cardiac …

Mar 30, 2025 · SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) is a Protein Coding gene. Diseases associated with SCN5A include Sudden Infant Death Syndrome and Long Qt …

The positions of the S4s in domains III and IV of SCN5A are major determinants of the voltage dependence of lidocaine affinity. SCN5A is more widely distributed than previously thought …

Makita et al. (2000) characterized the functional roles of the auxiliary beta subunit by coexpression of the beta subunit with either wildtype SCN5A or SCN5A carrying the …

We give an overview of the different phenotypes of "SCN5A disease" and discuss the importance of co-inherited genetic variants in the expression of SCN5A disease. Keywords: genetic …

The Sodium and Calcium Channel Arrhythmia Variant Curation Expert Panel (VCEP) will focus on the curation and interpretation of genetic variants in the SCN5A gene. SCN5A encodes the …