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Kir 2.1 channelopathies: the Andersen–Tawil syndrome

  • Martin Tristani-Firouzi
  • Susan P. Etheridge
Invited Review

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 I K1. I K1 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.

Keywords

Potassium channel KCNJ2 Inward rectifier Arrhythmia 

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Division of Pediatric CardiologyUniversity of Utah School of MedicineSalt Lake CityUSA

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