Results 1 to 10 of about 138,611 (238)
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 +2 more
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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 +2 more
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Andersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report [PDF]
BMC Cardiovascular DisordersAndersen-Tawil syndrome (ATS) is a rare autosomal dominant genetic disorder. Its main clinical manifestations include severe ventricular arrhythmias (VA), periodic paralysis, and facial and skeletal dysplasia. Due to the lack of awareness of this disease,
Ruiting Feng +6 more
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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
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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
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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 +8 more
openaire +4 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 PracticeMansoor Namazi +5 more
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Акушерство, гинекология и репродукция, 2023 The article discusses the historical features of the clinical formation of the diagnostic criteria of the Silverman-Andersen scale in the assessment of respiratory distress syndrome in preterm infants.
O. V. Zavyalov +3 more
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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome
Frontiers in Genetics, 2021 Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pauline Le Tanno +13 more
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Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report
Frontiers in Pediatrics, 2022 Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features.
Jisook Yim +6 more
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