Article
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.
JAMA pediatrics - 1 May 2025
Moya-Mendez Mary E, Bidzimou Minu-Tshyeto, Muralidharan Padmapriya, Zhang Zhushan, Ezekian Jordan E, Perelli Robin M, Parker Lauren E, Prange Lyndsey, Boggs April, Kim Jeffrey J, Howard Taylor S, Word Tarah A, Wehrens Xander H T, Reyes Valenzuela Gabriela, Caraballo Roberto, Garone Giacomo, Vigevano Federico, Weckhuysen Sarah, Millevert Charissa, Troncoso Monica, Matamala Mario, Balestrini Simona, Sisodiya Sanjay M, Poole Josephine, Zucca Claudio, Panagiotakaki Eleni, Papadopoulou Maria T, Tchaicha Sébile, Zawadzka Marta, Mazurkiewicz-Beldzinska Maria, Fons Carmen, Anticona Jennifer, De Grandis Elisa, Cordani Ramona, Pisciotta Livia, Groppa Sergiu, Paryjas Sandra, Ragona Francesca, Mangia Elena, Granata Tiziana, Megvinov Andrey, Pavlicek Mirjana, Ess Kevin, Simmons Christine Q, George Alfred L, Vavassori Rosaria, Mikati Mohamad A, Landstrom Andrew P
Abstract excerpt
Importance: Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3-encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC is primarily a neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias. Objective: To determine the impact of ATP1A3 variants on cardiac...
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