ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

doi:10.1161/JAHA.120.019887

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Article

ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

Journal of the American Heart Association - 7 Sept 2021

Moya-Mendez Mary E, Ogbonna Chiagoziem, Ezekian Jordan E, Rosamilia Michael B, Prange Lyndsey, de la Uz Caridad, Kim Jeffrey J, Howard Taylor, Garcia John, Nussbaum Robert, Truty Rebecca, Callis Thomas E, Funk Emily, Heyes Matthew, Dear Guy de Lisle, Carboni Michael P, Idriss Salim F, Mikati Mohamad A, Landstrom Andrew P

Abstract excerpt

Background Pathogenic variation in the ATP1A3-encoded sodium-potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death in epilepsy, the pathophysiologic basis for this risk remains unknown. The objective was to determine the role of ATP1A3 genetic variants on cardiac outcomes as determined by QT and corrected...

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PMID: 34459253
DOI: 10.1161/JAHA.120.019887
PMCID: PMC8649289

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