Results 41 to 50 of about 851 (125)
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
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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
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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published online March 16, 2015, have been removed because the patients requested that their consent for publication be withdrawn.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 ...
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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
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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
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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
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Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome [PDF]
Korean Circulation Journal, 2013 Andersen-Tawill syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is caused by mutations of KCNJ2 gene, which encodes inward rectifying potassium channel. Here, we report an 18-year-old girl who was presented with life-threatening cardiac arrhythmia and
Pyo, Jung Yoon +6 more
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Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis [PDF]
Journal of Human Genetics, 2014 Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.3 near the KCNJ2 gene ...
Diaz-Manera J +6 more
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Chronic Propafenone Application Increases Functional KIR2.1 Expression In Vitro
Pharmaceuticals, 2023 Expression and activity of inwardly rectifying potassium (KIR) channels within the heart are strictly regulated. KIR channels have an important role in shaping cardiac action potentials, having a limited conductance at depolarized potentials but ...
Encan Li +3 more
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Frontiers in Cellular Neuroscience, 2018 Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-
Anna Binda +7 more
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