Nucleic acid encoding sodium channel subunit

摘要

The present invention discloses four groups of SCN5A variants that represent the most common SCN5A variants in humans. A specific mutation in one of the variants has been shown to display a different phenotype in relation to a human heart disease than other variants and known human sodium channel alpha subunits with corresponding mutations. The present invention provides new tools to study mutations and to design or identify new diagnostic and treatment strategies or agents for sodium channel related diseases or conditions.