Timothy syndrome is a severe variant of long QT syndrome, but an accurate in vivo model to study the disease and identify treatments has been lacking. A knock-in swine model of Timothy syndrome now shows that CaMKII-mediated reduction in peak INa slows the cardiac impulse propagation and contributes to the severe arrhythmia in the disorder.
- Bastiaan J. Boukens
- Arie O. Verkerk
- Connie R. Bezzina