Results 31 to 40 of about 2,073 (179)

Development of new Kir2.1 channel openers from propafenone analogues [PDF]

British Journal of Pharmacology, Volume 182, Issue 3, Page 633-650, February 2025.
Background and Purposes: Reduced inward rectifier potassium channel (Kir2.1) functioning is associated with heart failure and may cause Andersen-Tawil Syndrome, among others characterized by ventricular arrhythmias.
Boujeddaine, Najla, Ecker, Gerhard F., Houtman, Marien J.C., Li, Encan, Maas, Renee G.C., Sluijter, Joost P.G., Stary-Weinzinger, Anna, van der Heyden, Marcel A.G., van Ham, Willem B.   +8 more
core   +2 more sources

Mitochondrial DNA polymorphisms in Andersen–Tawil syndrome [PDF]

Kardiologia Polska, 2020
Brito-Carreón, Cesar A., Cervantes-Barragan, David, de L. Muñoz, Maria, Márquez, Manlio F., Totomoch-Serra, Armando   +4 more
core   +4 more sources

Andersen–Tawil Syndrome [PDF]

Cardiology in Review, 2020
Andersen–Tawil syndrome (ATS) is a very rare orphan genetic multisystem channelopathy without structural heart disease (with rare exceptions). ATS type 1 is inherited in an autosomal dominant fashion and is caused by mutations in the KCNJ2 gene, which encodes the α subunit of the K+ channel protein Kir2.1 (in ≈ 50–60% of cases).
Pérez-Riera, Andrés Ricardo, Barbosa-Barros, Raimundo, Samesina, Nelson, Pastore, Carlos Alberto, Scanavacca, Mauricio, Daminello-Raimundo, Rodrigo, de Abreu, Luiz Carlos, Nikus, Kjell, Brugada, Pedro   +8 more
openaire   +4 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

Every face tells a story-unravelling a case of bidirectional ventricular tachycardia

Indian Pacing and Electrophysiology Journal, 2020
Bidirectional ventricular tachycardia is a rare form of tachycardia. We hereby report a case of bidirectional ventricular tachycardia in an 8-year-old boy wherein careful clinical exami-nation led to the diagnosis of Andersen Tawil syndrome.
Sakshi Sachdeva, Saurabh Kumar Gupta, Nitish Naik   +2 more
doaj   +1 more source

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?

European Journal of Medical Genetics, 2022
Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for NS in whom no variant in one of the genes known to cause NS was found
Werf -'t Lam, A.S. van der, Haeringen, A. van, Rinnen, T., Medina, R.M.R. de, Wilde, A.A.M., Hennekam, R.C., Barge-Schaapveld, D.Q.C.M.   +6 more
openaire   +4 more sources

Child Neurology: Andersen-Tawil syndrome [PDF]

Neurology, 2015
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses. This autosomal dominant disorder was initially named after Andersen, who in 1971 reported the case of a young boy presenting with intermittent muscle weakness, ventricular arrhythmias, and other developmental abnormalities.
Mohammed, Almuqbil, Myriam, Srour
openaire   +2 more sources

Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases. [PDF]

, 2016
Sudden cardiac death (SCD) in the young (
Ackerman, Ackerman, Ackerman, Anderson, Antzelevitch, Antzelevitch, Bagnall, Basso, Behr, Bellocq, Bezzina, Bezzina, Brugada, Buscemi, Chugh, Creighton, Crotti, Dean, Di Paolo, Elliott, Etheridge, Farrugia, Gaita, Giudicessi, Gladding, Grantham, Gussak, Hayashi, Hedley, Hershberger, Hertz, Hertz, Jabbari, Jefferies, Kapplinger, Lahat, Laitinen, Larsen, Leenhardt, Li, Lodder, Lubitz, MacArthur, Marcus, Maron, Mazzanti, Medeiros-Domingo, Meyer, Miles, Mizusawa, Narula, Neubauer, Neyroud, Nishio, Nunn, Petretta, Plaster, Priori, Priori, Priori, Priori, Probst, Refsgaard, Richard, Richards, Risgaard, Schulze-Bahr, Schwartz, Schwartz, Schwartz, Semsarian, Skinner, Splawski, Stattin, Tester, Tester, Tester, Towbin, van der Werf, van Rijsingen, Ware, Winkel   +81 more
core   +10 more sources