SCN5A Variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells

The cardiac sodium channel (SCN5A) mutation, R222Q, neutralizes a positive charge in the domain I voltage sensor. Mutation carriers display very frequent ectopy and dilated cardiomyopathy (DCM).

Source: Heart Rhythm - May 20, 2019 Category: Cardiology Authors: Laura L. Daniel, Tao Yang, Brett Kroncke, Lynn Hall, Dina Stroud, Dan M. Roden Source Type: research