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Hypothesis-generating ATS1 case; leaves open arrhythmia management strategies in KCNJ2 carriers.
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant or sporadic disorder defined by a triad of periodic muscle paralysis, ventricular arrhythmias (long QT-7), and dysmorphic features. The estimated prevalence is 1 in 1,000,000.1,2 The underlying mutation is in the KCNJ2 gene encoding the inward rectifier potassium channels (Kir2.1) present in both skeletal and cardiac muscles. About 80%−90% of ATS cases have an identified KCNJ2 mutation, and these cases are classified as ATS1, with the rest designated ATS2.
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Fadahunsi et al. (2015) studied this question.
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