Article
Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc - 1 Mar 2016
Jagodzińska Michalina, Szperl Małgorzata, Ponińska Joanna, Kosiec Agnieszka, Gajda Robert, Kukla Piotr, Biernacka Elżbieta Katarzyna
Abstract excerpt
BACKGROUND: Andersen-Tawil Syndrome (ATS) is a channelopathy caused by mutations in KCNJ2 gene. It is characterized by symptoms of ventricular arrhythmias, periodic paralysis or muscle weakness, and dysmorphic features. ATS can present with the triad of symptoms, any combination or none of them. Risk factors for dangerous arrhythmias are unknown. The study assessed the impact of K897T polymorphism in hERG1 gene...
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