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Article

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.

Pflugers Archiv : European journal of physiology - 1 Jul 2010

Tristani-Firouzi Martin, Etheridge Susan P

Abstract excerpt

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...

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Identifiers

PMID: 20306271
DOI: 10.1007/s00424-010-0820-6

Genes

KCNJ2

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