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
doaj +10 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 +3 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 +3 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 +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 +3 more sources
Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes [PDF]
Biochemistry and Biophysics Reports, 2017 Andersen-Tawil syndrome (ATS) is a rare inherited channelopathy. The cardiac phenotype in ATS is typified by a prominent U wave and ventricular arrhythmia. An effective treatment for this disease remains to be established.
Yusuke Kuroda +25 more
doaj +5 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 +2 more
doaj +3 more sources
Successful cardiac sympathetic denervation for Andersen-Tawil syndrome. [PDF]
Europace, 2023 Krych M +5 more
europepmc +4 more sources
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 ...
Martin Tristani-Firouzi
semanticscholar +8 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 +8 more
europepmc +2 more sources