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Updated: Jun 14, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
Published on: March 12, 2013
Kir 2.1 channelopathies: the Andersen-Tawil syndrome
Martin Tristani-Firouzi1, Susan P Etheridge
1Division of Pediatric Cardiology, University of Utah School of Medicine, Pediatric Cardiology Suite 1500 PCMC, 100 N. Mario Capecchi Way, Salt Lake City, UT 84113, USA. mfirouzi@cvrti.utah.edu
Abstract:
As a multisystem disorder, Andersen-Tawil syndrome (ATS) is rather unique in the family of channelopathies. The full spectrum of the disease is characterized by ventricular arrhythmias, dysmorphic features, and periodic paralysis. Most ATS patients have a mutation in the ion channel gene, KCNJ2, which encodes the inward rectifier K+ channel Kir2.1, a component of the inward rectifier IK1.IK1 provides repolarizing current during the most terminal phase of repolarization and is the primary conductance controlling the diastolic membrane potential. Thus, ATS is a disorder of cardiac repolarization. The chapter will discuss the most recent data concerning the genetic, cellular, and clinical data underlying this unique disorder.
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