Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological? [PDF]
Indian Pacing and Electrophysiology Journal, 2015 Michael David Fryer +2 more
doaj +4 more sources
When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]
Annals of Noninvasive ElectrocardiologyA 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
doaj +2 more sources
Multisystemic Assessment in Andersen–Tawil Syndrome: Report of Eighteen Individuals [PDF]
DiagnosticsBackground/Objectives: Andersen–Tawil Syndrome (ATS) is an ultra-rare autosomal dominant condition secondary to deleterious variants in KCNJ2 or KCNJ5 in the majority of patients.
Maria Gnazzo +17 more
doaj +2 more sources
Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease [PDF]
Annals of Indian Academy of NeurologyAndersen–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 +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 +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 +4 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 +5 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 MedicineBackground: 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 +5 more
doaj +2 more sources
Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome [PDF]
Frontiers in NeurologyPurposeTo explore the clinical, muscle pathological, and pathogenic gene mutation characteristics of Andersen-Tawil Syndrome (ATS) and enhance the understanding of ATS among clinical practitioners.MethodsRetrospective analysis of clinical data and muscle
Jiaxuan Wang +9 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 +3 more
doaj +2 more sources