Condition: Andersen Syndrome


rs104894575 in KCNJ2 gene and Andersen Syndrome PMID 11371347 2001 Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

PMID 16571646 2006 Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

PMID 17324964 2007 Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

PMID 12163457 2002 Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

PMID 12148092 2002 KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

PMID 12796536 2003 PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

PMID 17074643 2006 Andersen-Tawil syndrome: an ever-expanding phenotype?

PMID 17119796 2006 Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.

PMID 17074642 2006 A family with Andersen-Tawil syndrome and dilated cardiomyopathy.

PMID 25415519 2014 Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS.

PMID 12909315 2003 Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

PMID 22589293 2012 Phenotype variability in patients carrying KCNJ2 mutations.

PMID 17211524 2007 Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

PMID 17568571 2007 Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

PMID 16217063 2005 Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

PMID 17221872 2007 Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 23867365 2013 Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.

PMID 22806368 2012 Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles.

PMID 17341397 2007 KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.

PMID 18452873 2008 Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

PMID 24861851 2015 Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

PMID 15911703 2005 Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.

PMID 17582433 2007 In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation.

PMID 21493816 2011 A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.

PMID 16818210 2006 Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

PMID 23644778 2013 Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.

PMID 23595086 2013 Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.

PMID 20382953 2010 Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.

PMID 22002906 2012 Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.

PMID 14522976 2003 Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.

PMID 12086641 2002 Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.

PMID 17211524 2007 We have identified two missense mutations of KCNJ2 (R218Q and M307I) in two Korean families diagnosed with ATS.

PMID 28003625 2017 Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.

PMID 24047492 2013 Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome.

rs199830292 in KCNJ5 gene and Andersen Syndrome PMID 24574546 2014 A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.