Results 41 to 50 of about 860 (142)
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias – Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene [PDF]
Journal of Cardiology, 2017 Piotr Kukla +2 more
exaly +2 more sources
Muscle channelopathies: A review
Annals of the Child Neurology Society, Volume 1, Issue 4, Page 273-288, December 2023., 2023 Abstract Background Muscle channelopathies are a rare and heterogeneous group of disorders that can be clinically challenging and functionally disabling. These disorders can present in both adult and pediatric age groups. These disorders have been known since the turn of the 20th century, with a steady evolution in terms of understanding the ...
Bridget R. McGowan +3 more
wiley +1 more source
Muscle &Nerve, Volume 68, Issue 4, Page 439-450, October 2023., 2023 Abstract Introduction/Aims The periodic paralyses are muscle channelopathies: hypokalemic periodic paralysis (CACNA1S and SCN4A variants), hyperkalemic periodic paralysis (SCN4A variants), and Andersen‐Tawil syndrome (KCNJ2). Both episodic weakness and disabling fixed weakness can occur.
Vinojini Vivekanandam +8 more
wiley +1 more source
Journal of Arrhythmia, 2012 Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya +10 more
doaj +1 more source
Management and Treatment of Andersen-Tawil Syndrome (ATS) [PDF]
Neurotherapeutics, 2007 Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2.1.
V. Sansone, R. Tawil
openaire +3 more sources
Case Reports in Cardiology, Volume 2023, Issue 1, 2023., 2023 Significant lead‐induced tricuspid regurgitation after cardiovascular implantable electronic devices is not uncommon. Absolute or relative contraindications to place the lead in the right ventricle after tricuspid valve (TV) surgery still remains a challenge.
M. Gruszczynski +6 more
wiley +1 more source
Frontiers in Cell and Developmental Biology, 2022 Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders.
Natalie A. Hager +3 more
doaj +1 more source
Child Neurology: Andersen-Tawil syndrome [PDF]
Neurology, 2020 Two images of patients in the article “Child Neurology: Andersen-Tawil syndrome” by Almuqbil and Srour,1 published online March 16, 2015, have been removed because the patients requested that their consent for publication be withdrawn. The removal of the images does not invalidate the paper because an extensive verbal description of the patients was ...
openaire +2 more sources
Frontiers in Neurology, 2023 Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to ...
Zhi Zhang, Banghui Xiao
doaj +1 more source
Sudden cardiac death in Andersen–Tawil syndrome [PDF]
EP Europace, 2007 Andersen-Tawil syndrome (ATS) is an autosomal dominant or sporadic disorder characterized by periodic paralysis, dysmorphic features, and ventricular arrhythmias. Although ventricular tachycardia burden is quite high sudden cardiac death in ATS is rare.
Stefan, Peters +3 more
openaire +2 more sources