{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:30:51Z","timestamp":1790145051930,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,19]],"date-time":"2014-11-19T00:00:00Z","timestamp":1416355200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Andersen\u2013Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in echocardiographic recordings will lead to diagnosis of ATS. Striking intrafamilial variability of expression of <jats:italic>KCNJ2<\/jats:italic> mutations and rarity of the syndrome may lead to misdiagnosis. <jats:italic>Methods<\/jats:italic>: We report 15 patients from 8 Polish families with ATS, including 3 with novel <jats:italic>KCNJ2<\/jats:italic> mutations. <jats:italic>Results<\/jats:italic>: All patients had dysmorphic features; periodic paralysis affected males more frequently than females (80% vs. 20%), and most attacks were normokalemic. Two patients (with T75M and T309I mutations) had aborted sudden cardiac death. An implantable cardioverter\u2010defibrillator was utilized in 40% of cases. <jats:italic>Conclusions<\/jats:italic>: <jats:italic>KCNJ2<\/jats:italic> mutations cause a variable phenotype, with dysmorphic features seen in all patients studied, a high penetrance of periodic paralysis in males and ventricular arrhythmia with a risk of sudden cardiac death. Muscle Nerve <jats:bold>51<\/jats:bold>: 192\u2013196, 2015<\/jats:p>","DOI":"10.1002\/mus.24293","type":"journal-article","created":{"date-parts":[[2014,5,23]],"date-time":"2014-05-23T18:38:50Z","timestamp":1400870330000},"page":"192-196","source":"Crossref","is-referenced-by-count":21,"title":["Andersen\u2013Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement"],"prefix":"10.1002","volume":"51","author":[{"given":"Anna","family":"Kostera\u2010Pruszczyk","sequence":"first","affiliation":[{"name":"Department of Neurology Medical University of Warsaw Banacha 1a 02 097 Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Potulska\u2010Chromik","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of Warsaw Banacha 1a 02 097 Warsaw 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