Associated Papers
Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.
Anderson CL et al.
The Journal of Biological Chemistry, 2026
Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide.
Oreto L et al.
The Journal of Pediatric Pharmacology and Therapeutics : Jppt : the Official Journal of Ppag, 2023
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Le Tanno P et al.
Frontiers in Genetics, 2021
Andersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1.
Handklo-Jamal R et al.
Frontiers in Pharmacology, 2020
Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.
Fukumura S et al.
Journal of the Neurological Sciences, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.
Krych M et al.
Journal of Cardiology, 2017
Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.
Song J et al.
Muscle & Nerve, 2016
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
Kostera-Pruszczyk A et al.
Muscle & Nerve, 2015
Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome.
Kukla P et al.
Current Cardiology Reviews, 2014
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.
Limberg MM et al.
Basic Research in Cardiology, 2013
Phenotype variability in patients carrying KCNJ2 mutations.
Kimura H et al.
Circulation. Cardiovascular Genetics, 2012
Kir 2.1 channelopathies: the Andersen-Tawil syndrome.
Tristani-Firouzi M et al.
Pflugers Archiv : European Journal of Physiology, 2010
Cardiac strong inward rectifier potassium channels.
Anumonwo JM et al.
Journal of Molecular and Cellular Cardiology, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.
Vega AL et al.
Circulation. Arrhythmia and Electrophysiology, 2009
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.
Eckhardt LL et al.
Heart Rhythm, 2007
Screening for KCNJ2 mutations: the physician's perspective.
Extramiana F
Heart Rhythm, 2007
[Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].
Márquez MF et al.
Archivos De Cardiologia De Mexico, 0