A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.
Synonyms: Andersen-Tawil Syndrome, Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features, Periodic Paralysis, Potassium Sensitive Cardiodysrhythmic Type, Syndrome, Andersen, Andersen Syndrome, Andersen Cardiodysrhythmic Periodic Paralysis, Andersen Tawil Syndrome, Andersen Cardiodysrythmic Periodic Paralysis, Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type, Long QT Syndrome 7, Syndrome, Andersen Tawil
Instance information
do not confuse with ANDERSEN DISEASE see GLYCOGEN STORAGE DISEASE TYPE IV ,2006
D050030