BMC Med Genet 2017 10 10;18(1):113. Epub 2017 Oct 10.
Institute of Legal Medicine, University Hospital Frankfurt, Goethe University, Kennedyallee 104, D-60596, Frankfurt, Germany.
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Can J Physiol Pharmacol 2015 Jul 17;93(7):569-75. Epub 2015 Apr 17.
b 2nd Department of Internal Medicine and Cardiology Center, University of Szeged, H-6720 Szeged, Korányi fasor 6, Hungary.
Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic features. Clinical manifestations of the disease appear to vary greatly with the nature of mutation, therefore, functional characterisation of ATS-causing mutations is of clinical importance. Read More
Circ Cardiovasc Genet 2011 Feb 10;4(1):51-7. Epub 2010 Dec 10.
Masonic Medical Research Laboratory, Utica, NY 13501-1787, USA.
Background: Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1 (IK1 or IKir2.1), have been identified in Andersen-Tawil syndrome. Read More
Circ Cardiovasc Genet 2011 Jun 14;4(3):253-60. Epub 2011 Apr 14.
Department of Cardiovascular Medicine, Kyoto University, Graduate School of Medicine, Kyoto, Japan.
Background: Mutations in KCNJ2, a gene encoding the inward rectifier K(+) channel Kir2.1, are associated with Andersen-Tawil syndrome (ATS), which is characterized by (1) ventricular tachyarrhythmias associated with QT (QU)-interval prolongation, (2) periodic paralysis, and (3) dysmorphic features.
Methods And Results: We identified a novel KCNJ2 mutation, S369X, in a 13-year-old boy with prominent QU-interval prolongation and mild periodic paralysis. Read More
Hum Mutat 2007 Feb;28(2):208
Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been identified in patients with ATS. Read More