Results 11 to 20 of about 2,246,673 (121)

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   +3 more sources

Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome [version 1; referees: 2 approved] [PDF]

F1000Research, 2017
In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).
Armando Totomoch-Serra, Manlio F. Marquez, David E. Cervantes-Barragán   +2 more
doaj   +3 more sources

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

Cardiovasc Res, 2023
Andersen-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 ...
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   +2 more sources

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
Park S, Heo W, Shin SW, Kim HJ, Yoo YM, Kim HY.   +5 more
europepmc   +2 more sources

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, González-Guerra A, Moreno-Manuel AI, Cruz FM, Gutiérrez LK, García-Quintáns N, Roche-Molina M, Bermúdez-Jiménez F, Andrés V, Vera-Pedrosa ML, Martínez-Carrascoso I, Bernal JA, Jalife J.   +12 more
europepmc   +2 more sources

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, Damjan Osredkar, Nataša Šuštar   +2 more
doaj   +2 more sources

Potassium-sensitive loss of muscle force in the setting of reduced inward rectifier K⁺ current: Implications for Andersen-Tawil syndrome. [PDF]

Proc Natl Acad Sci U S A
Significance Loss-of-function mutations of the Kir2.1 K+ channel subunit cause a triad of periodic paralysis, cardiac arrhythmia, and skeletal anomalies in the Andersen–Tawil syndrome.
Elia N, Quiñonez M, Wu F, Mokhonova E, DiFranco M, Spencer MJ, Cannon SC.   +6 more
europepmc   +2 more sources

Extracellular Kir2.1^C122Y Mutant Upsets Kir2.1-PIP₂ Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome. [PDF]

Circ Res
BACKGROUND: Andersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding the strong inwardly rectifying K+ channel Kir2.1.
Cruz FM, Macías Á, Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Martínez-Carrascoso I, Sánchez Pérez P, Ruiz Robles JM, Bermúdez-Jiménez FJ, Díaz-Agustín A, Martínez de Benito F, Arias-Santiago S, Braza-Boils A, Martín-Martínez M, Gutierrez-Rodríguez M, Bernal JA, Zorio E, Jiménez-Jaimez J, Jalife J.   +18 more
europepmc   +2 more sources

Delayed diagnosed atypical case of Andersen-Tawil syndrome [PDF]

Neurology International, 2019
Andersen-Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, cardiac arrhythmias and distinctive dysmorphic features. Due to its rarity and high degree of clinical and phenotypic variability, a diagnosis of ATS can be very perplexing ...
Ahmet Z. Burakgazi
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