B-Po05-022 Clinical and Functional Characterization of Scn5a Variants Linked to Adrenergic Ventricular Arrhythmia: A Multicenter Study

Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes

“…CPVT is a pleiotropic manifestation of SCN5A variants associated with both loss‐ and gain‐of‐function properties (Pérez‐Riera et al., 2018). We have recently identified several mutations that are associated with CPVT including L807P and E446K (Roston et al., 2021). Both L807P and E446K are characterized by destabilized Nav1.5 inactivation and increased persistent current (Roston et al., 2021).…”

“…We have recently identified several mutations that are associated with CPVT including L807P and E446K (Roston et al., 2021). Both L807P and E446K are characterized by destabilized Nav1.5 inactivation and increased persistent current (Roston et al., 2021).…”