Results 21 to 30 of about 2,246,673 (121)

Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome

The FASEB Journal, Volume 38, Issue 21, 15 November 2024.
Inwardly rectifying potassium (Kir) channels play a pivotal role in physiology by establishing, maintaining, and regulating the resting membrane potential of the cells, particularly contributing to the cellular repolarization of many excitable cells ...
Dania Zuniga, Andreas Zoumpoulakis, Rafael F. Veloso, Laurie Peverini, Sophie Shi, Alexandre Pozza, Valérie Kugler, F. Bonneté, Tahar Bouceba, Renaud Wagner, P. Corringer, Carlos A. H. Fernandes, Catherine Vénien-Bryan   +12 more
semanticscholar   +2 more sources

Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome. [PDF]

BMJ Case Rep, 2020
Andersen-Tawil syndrome (ATS) is a rare channelopathy, sometimes referred to as long QT syndrome type 7. ATS is an autosomal dominant disease predominantly caused by mutations in the KCNJ2 gene. Patients with ATS present with episodes of muscle weakness,
Polyak ME, Shestak A, Podolyak D, Zaklyazminskaya E.   +3 more
europepmc   +2 more sources

Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes [PDF]

Biochemistry and Biophysics Reports, 2017
Andersen-Tawil syndrome (ATS) is a rare inherited channelopathy. The cardiac phenotype in ATS is typified by a prominent U wave and ventricular arrhythmia. An effective treatment for this disease remains to be established.
Yusuke Kuroda, Shinsuke Yuasa, Yasuhide Watanabe, Shogo Ito, Toru Egashira, Tomohisa Seki, Tetsuhisa Hattori, Seiko Ohno, Masaki Kodaira, Tomoyuki Suzuki, Hisayuki Hashimoto, Shinichiro Okata, Atsushi Tanaka, Yoshiyasu Aizawa, Mitsushige Murata, Takeshi Aiba, Naomasa Makita, Tetsushi Furukawa, Wataru Shimizu, Itsuo Kodama, Satoshi Ogawa, Norito Kokubun, Hitoshi Horigome, Minoru Horie, Kaichiro Kamiya, Keiichi Fukuda   +25 more
doaj   +2 more sources

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

Europace, 2023
Krych M, Janisz K, Kuriata J, Kuśmierczyk M, Hoffman P, Biernacka EK.   +5 more
europepmc   +2 more sources

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

Annals 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, Jing Wang, Xue‐Qi Li, Min Gao   +3 more
doaj   +2 more sources

Andersen-Tawil Syndrome [PDF]

Indian Pacing and Electrophysiology Journal, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Andrew H. Smith, Frank A. Fish, Prince J. Kannankeril   +2 more
doaj   +1 more source

Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological? [PDF]

Indian Pacing and Electrophysiology Journal, 2015
Michael David Fryer, Gerald Kaye, Susan Tomlinson   +2 more
doaj   +2 more sources

Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]

HeartRhythm Case Reports, 2017
Hanora A. Van Ert, BSN, Elise C. McCune, Kate M. Orland, MS, Kathleen R. Maginot, MD, Nicholas H. Von Bergen, MD, Craig T. January, MD, PhD, Lee L. Eckhardt, MD, FHRS   +6 more
doaj   +2 more sources

Atrial pacing for the management of ventricular arrhythmias in Andersen-Tawil syndrome [PDF]

HeartRhythm Case Reports, 2015
Opeyemi Fadahunsi, MBBS, MPH, Bilal Shaikh, DO, Andrew Rettew, DO, Kyle Bennett, DO, David Scollan, MD, PhD   +4 more
doaj   +2 more sources

Andersen Tawil syndrome – a case study

Journal of Education, Health and Sport, 2021
The first case of a patient with periodic paralysis of muscles accompanied by ventricular arrhythmias was described in 1963 by Klein and colleagues[1]. In 1971, the team led by E.D.
Joanna Mroczek, Szymon Krzewski, Mateusz Baranowski   +2 more
doaj   +1 more source