Results 11 to 20 of about 860 (142)

When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]

Annals of Noninvasive Electrocardiology
A 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
doaj   +3 more sources

Unlocking the Secrets of Andersen–Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome [PDF]

Cardiology Research and Practice
Background Andersen–Tawil syndrome (ATS) is a rare inheritable potassium channelopathy, accompanied by ventricular arrhythmias due to long QT intervals, muscle weakness, and dysmorphic features. Next‐generation sequencing can identify the genetic causes of the phenotype. Methods Whole‐exome sequencing (WES) was performed on a 12‐year‐old girl with long
Mansoor Namazi, Niloofar Naderi, Amir Askarinejad, Mohammad Dalili, Majid Maleki, Samira Kalayinia   +5 more
doaj   +3 more sources

Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease [PDF]

Annals of Indian Academy of Neurology
Andersen–Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life.
Himanshu Shakya, Shivangi Bhatnagar, Pratik Babel, Suman Kushwaha, Rajinder K Dhamija   +4 more
doaj   +2 more sources

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome. [PDF]

Cardiovasc Res, 2023
AbstractAndersen-Tawil syndrome (ATS) is a rare inheritable disease associated with loss-of-function mutations in KCNJ2, the gene coding the strong inward rectifier potassium channel Kir2.1, which forms an essential membrane protein controlling cardiac excitability.
Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Cruz FM, Bermúdez-Jiménez FJ, Martínez-Carrascoso I, Sánchez-Pérez P, Macías Á, Jalife J.   +8 more
europepmc   +5 more sources

Successful treatment of arrhythmia with β‐blocker and flecainide combination in pregnant patients with Andersen–Tawil syndrome: A case report and literature review [PDF]

Annals of Noninvasive Electrocardiology, 2021
Andersen–Tawil syndrome (ATS) is a rare disorder characterized by a triad of ventricular arrhythmia (VA), dysmorphic features, and periodic paralysis.
Pongprueth Rujirachun, Apichaya Junyavoraluk, Manop Pithukpakorn, Bhoom Suktitipat, Arjbordin Winijkul   +4 more
doaj   +2 more sources

Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features [PDF]

European Journal of Case Reports in Internal Medicine
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias.
Mustafa Shehzad, Dawood Shehzad, Muhammad Ahmad, Sundus Huma, Shaheer Minhas, Abdul Wassey   +5 more
doaj   +2 more sources

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients [PDF]

BMC Medical Genetics, 2017
Background Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > 
Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein   +5 more
doaj   +2 more sources

Andersen–Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1 [PDF]

Frontiers in Pharmacology, 2020
Andersen–Tawil syndrome (ATS) type-1 is associated with loss-of-function mutations in KCNJ2 gene. KCNJ2 encodes the tetrameric inward-rectifier potassium channel Kir2.1, important to the resting phase of the cardiac action potential.
Reem Handklo-Jamal, Eshcar Meisel, Eshcar Meisel, Daniel Yakubovich, Daniel Yakubovich, Leonid Vysochek, Roy Beinart, Roy Beinart, Michael Glikson, Michael Glikson, Julie R. McMullen, Nathan Dascal, Eyal Nof, Eyal Nof, Shimrit Oz, Shimrit Oz   +15 more
doaj   +2 more sources

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

International Journal of Pediatrics & Adolescent Medicine, 2022
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, Waleed M. Al-Manea, Sahar A. Tulbah, Zuhair N. Al-Hassnan   +3 more
doaj   +2 more sources

Clinodactyly and syndactyly – diagnostic clues for Andersen-Tawil syndrome [PDF]

Arquivos de Neuro-Psiquiatria, 2014
A 38-year-old man was diagnosed, at the age of 18, with SCN4A-negative hyperkalaemic periodic paralysis. The diagnosis remained unchanged until his 8-year-old daughter suffered an exercise-induced syncope. Her EKG showed a polymorphic ventricular tachycardia.
Carlos Andrade, Joana Meireles, Miguel Leão, Fernando Silveira   +3 more
doaj   +3 more sources