FUNCTIONAL CHARACTERIZATION OF KCNJ2 MISSENSE VARIANTS IDENTIFIED IN PATIENTS WITH ANDERSEN-TAWIL SYNDROME

Andersen-Tawil syndrome (ATS), also called Long QT syndrome 7, is a rare autosomal dominant genetic disorder characterized by a triad of episodic flaccid muscle weakness, ventricular arrhythmias and prolonged QT interval, and anomalies such as low-set ears, ocular hypertelorism, small mandible,