Results 21 to 30 of about 2,073 (179)

Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. [PDF]

open access: yesCurr Cardiol Rev, 2014
Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and skeletal dysmorphism. Mutations in KCNJ2, which encodes the α-subunit of the potassium channel Kir2.1, were identified in patients with ATS.
Kukla P   +4 more
europepmc   +4 more sources

Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations. [PDF]

open access: yesAnn Noninvasive Electrocardiol, 2020
journal ...
Horigome H   +10 more
europepmc   +3 more sources

Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience [PDF]

open access: yesInternational Journal of Pediatrics & Adolescent Medicine, 2019
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, ventricular arrhythmia, and dysmorphic features. However, the classical features are not always seen in the syndrome; therefore, the diagnosis can be ...
Norah A. Alrashed   +3 more
doaj   +2 more sources

Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report [PDF]

open access: yesBiomolecules
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life.
Maria Elena Onore   +5 more
doaj   +2 more sources

Extracellular Kir2.1<sup>C122Y</sup> Mutant Upsets Kir2.1-PIP<sub>2</sub> Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome. [PDF]

open access: yesCirc Res
BACKGROUND: Andersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding the strong inwardly rectifying K channel Kir2.1.
Cruz FM   +18 more
europepmc   +6 more sources

Successful cardiac sympathetic denervation for Andersen-Tawil syndrome. [PDF]

open access: yesEuropace, 2023
Krych M   +5 more
europepmc   +3 more sources

Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report. [PDF]

open access: yesAnn Noninvasive Electrocardiol, 2019
AbstractWe report on a 44‐year‐old woman with coincidence of two genetic disorders: Andersen–Tawil syndrome and Marfan syndrome. In both, life‐threatening arrhythmias could occur. A 44‐year‐old woman presented acute ascending aortic dissection with aortic arch involvement and chronic thoracic descending and abdominal aortic dissection.
Krych M   +4 more
europepmc   +4 more sources

Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome [version 1; referees: 2 approved] [PDF]

open access: yesF1000Research, 2017
In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).
Armando Totomoch-Serra   +2 more
doaj   +2 more sources

Rare Presentation of Wide QRS Tachycardia in a Patient in Their 40s

open access: yesAnnals of Noninvasive Electrocardiology
This article describes the case of a 40‐year‐old individual who presented with fulminant myocarditis. Initial ECG displayed sinus tachycardia with a heart rate of 117 bpm, QS complexes in leads V1–V3, ST‐segment depression in leads II, III, aVF, V5–V6 ...
Jing‐Xiu Li   +3 more
doaj   +2 more sources

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