Clinodactyly and syndactyly – diagnostic clues for Andersen-Tawil syndrome [PDF]
Arquivos de Neuro-Psiquiatria, 2014 A 38-year-old man was diagnosed, at the age of 18, with SCN4A-negative hyperkalaemic periodic paralysis. The diagnosis remained unchanged until his 8-year-old daughter suffered an exercise-induced syncope. Her EKG showed a polymorphic ventricular tachycardia.
Carlos Andrade +3 more
doaj +3 more sources
T‐Cell Acute Lymphoblastic Leukemia in a Young Patient With Andersen–Tawil Syndrome Successfully and Safely Treated With Intensive Chemotherapy Including Potential Precipitating Drugs: A Case Report After 3.5 Years of Follow‐up [PDF]
eJHaemAndersen–Tawil syndrome (ATS) is a rare, hereditary channelopathy characterized by periodic paralysis, cardiac arrhythmias, and sometimes developmental anomalies. No association with hematologic malignancies has previously been reported.
Ramy Rahmé +6 more
doaj +2 more sources
Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. [PDF]
Curr Cardiol Rev, 2014 Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and skeletal dysmorphism. Mutations in KCNJ2, which encodes the α-subunit of the potassium channel Kir2.1, were identified in patients with ATS.
Kukla P +4 more
europepmc +4 more sources
Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report. [PDF]
Ann Noninvasive Electrocardiol, 2019 AbstractWe report on a 44‐year‐old woman with coincidence of two genetic disorders: Andersen–Tawil syndrome and Marfan syndrome. In both, life‐threatening arrhythmias could occur. A 44‐year‐old woman presented acute ascending aortic dissection with aortic arch involvement and chronic thoracic descending and abdominal aortic dissection.
Krych M +4 more
europepmc +4 more sources
Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report [PDF]
BiomoleculesAndersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life.
Maria Elena Onore +5 more
doaj +2 more sources
Andersen-Tawil syndrome: visual clues to the diagnosis [PDF]
Arquivos de Neuro-PsiquiatriaJoão Victor Cabral Correia Férrer +5 more
doaj +2 more sources
Flecainide for the Treatment of Andersen-Tawil Syndrome
JACC: Clinical ElectrophysiologyAndersen-Tawil syndrome type 1 (ATS1) is a rare arrhythmogenic disorder resulting from loss-of-function mutations in KCNJ2. Although the use of flecainide has been proposed to treat and prevent life-threatening arrhythmic events in ATS1, it has only been tested in small case series with limited follow-up.
Tomer D. Mann +17 more
exaly +3 more sources
Andersen-Tawil syndrome — Periodic paralysis with dysmorphism
Indian Pediatrics, 2011 Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance.
Mahesh Kamate, Kamate Mahesh
exaly +3 more sources
Andersen-Tawil syndrome associated with myopathy. [PDF]
World J Emerg Med, 2020 Wu L, Fang Y, Zhang BR.
europepmc +4 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 +2 more sources