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Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1 (IK1 or IKir2.1), have been identified in Andersen-Tawil syndrome. Andersen-Tawil syndrome is a multisystem inherited disease exhibiting periodic paralysis, cardiac arrhythmias, and dysmorphic features at times mimicking catecholaminergic polymorphic ventricular tachycardia.

circulation. cardiovascular genetics

Biophysical and Molecular Characterization of a Novel De Novo <i>KCNJ2</i> Mutation Associated With Andersen-Tawil Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Mimicry

Biophysical and Molecular Characterization of a Novel De Novo KCNJ2 Mutation Associated With Andersen-Tawil Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Mimicry