General anesthesia using propofol infusion for implantation of an implantable cardioverter defibrillator in a pediatric patient with Andersen-Tawil syndrome: a case report. [PDF]
J Dent Anesth Pain Med, 2023 Andersen-Tawil syndrome (ATS) is a rare genetic disease characterized by a triad of episodic flaccid muscle weakness, ventricular arrhythmias, and physical anomalies. ATS patients have various cardiac arrhythmias that can cause sudden death. Implantation
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Kir2.1 dysfunction at the sarcolemma and the sarcoplasmic reticulum causes arrhythmias in a mouse model of Andersen-Tawil syndrome type 1. [PDF]
Nat Cardiovasc Res, 2022 Andersen–Tawil syndrome type 1 (ATS1) is associated with life-threatening arrhythmias of unknown mechanism. In this study, we generated and characterized a mouse model of ATS1 carrying the trafficking-deficient mutant Kir2.1Δ314-315 channel.
Macías Á +12 more
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Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome [PDF]
Case Reports in Neurology, 2021 We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily ...
Nina Žakelj +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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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
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The FASEB Journal, Volume 38, Issue 21, 15 November 2024.Inwardly rectifying potassium (Kir) channels play a pivotal role in physiology by establishing, maintaining, and regulating the resting membrane potential of the cells, particularly contributing to the cellular repolarization of many excitable cells ...
Dania Zuniga +12 more
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Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations. [PDF]
Ann Noninvasive Electrocardiol, 2020 journal ...
Horigome H +10 more
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Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome. [PDF]
BMJ Case Rep, 2020 Andersen-Tawil syndrome (ATS) is a rare channelopathy, sometimes referred to as long QT syndrome type 7. ATS is an autosomal dominant disease predominantly caused by mutations in the KCNJ2 gene. Patients with ATS present with episodes of muscle weakness,
Polyak ME +3 more
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Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome [PDF]
bioRxiv, 2023 S
Bermúdez-Jiménez, Francisco J +18 more
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Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome. [PDF]
Channels (Austin), 2011 Andersen-Tawil syndrome is characterized by periodic paralysis, ventricular ectopy and dysmorphic features. Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit
Marrus SB +3 more
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