Because of a lapse in government funding, the information on this
website may not be up to date, transactions submitted via the
website may not be processed, and the agency may not be able to
respond to inquiries until appropriations are enacted. The NIH
Clinical Center (the research hospital of NIH) is open. For more
details about its operating status, please visit
cc.nih.gov. Updates
regarding government operating status and resumption of normal
operations can be found at
opm.gov.
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.
Entry Term(s)
Andersen Cardiodysrhythmic Periodic Paralysis
Andersen Cardiodysrythmic Periodic Paralysis
Andersen Tawil Syndrome
Andersen-Tawil Syndrome
Long QT Syndrome 7
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features
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.