Results 21 to 30 of about 798 (112)

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

Biomolecules
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, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano   +5 more
doaj   +2 more sources

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

F1000Research, 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, Manlio F. Marquez, David E. Cervantes-Barragán   +2 more
doaj   +2 more sources

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

Muscle channelopathies: A review

Annals of the Child Neurology Society, Volume 1, Issue 4, Page 273-288, December 2023., 2023
Abstract Background Muscle channelopathies are a rare and heterogeneous group of disorders that can be clinically challenging and functionally disabling. These disorders can present in both adult and pediatric age groups. These disorders have been known since the turn of the 20th century, with a steady evolution in terms of understanding the ...
Bridget R. McGowan, Abigail N. Schwaede, Lenika De Simone, Vamshi K. Rao   +3 more
wiley   +1 more source

Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation

Muscle &Nerve, Volume 68, Issue 4, Page 439-450, October 2023., 2023
Abstract Introduction/Aims The periodic paralyses are muscle channelopathies: hypokalemic periodic paralysis (CACNA1S and SCN4A variants), hyperkalemic periodic paralysis (SCN4A variants), and Andersen‐Tawil syndrome (KCNJ2). Both episodic weakness and disabling fixed weakness can occur.
Vinojini Vivekanandam, Karen Suetterlin, Emma Matthews, John Thornton, Dipa Jayaseelan, Sachit Shah, Jasper M. Morrow, Tarek Yousry, Michael G. Hanna   +8 more
wiley   +1 more source

Inwardly Rectifying Potassium Channel Kir2.1 and its “Kir-ious” Regulation by Protein Trafficking and Roles in Development and Disease

Frontiers in Cell and Developmental Biology, 2022
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders.
Natalie A. Hager, Ceara K. McAtee, Mitchell A. Lesko, Allyson F. O’Donnell   +3 more
doaj   +1 more source

Transvenous ICD Implantation into a Coronary Sinus Branch: A Safe and Feasible Alternative to Deliver ICD after Tricuspid Valve Reconstruction

Case Reports in Cardiology, Volume 2023, Issue 1, 2023., 2023
Significant lead‐induced tricuspid regurgitation after cardiovascular implantable electronic devices is not uncommon. Absolute or relative contraindications to place the lead in the right ventricle after tricuspid valve (TV) surgery still remains a challenge.
M. Gruszczynski, A. Müller-Burri, A. Häussler, A. Breitenstein, H. Rodriguez Cetina Biefer, O. Dzemali, Marcio Barros   +6 more
wiley   +1 more source

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
doaj   +1 more source