Article
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Neurology - 24 Nov 2020
Balestrini Simona, Mikati Mohamad A, Álvarez-García-Rovés Reyes, Carboni Michael, Hunanyan Arsen S, Kherallah Bassil, McLean Melissa, Prange Lyndsey, De Grandis Elisa, Gagliardi Alessandra, Pisciotta Livia, Stagnaro Michela, Veneselli Edvige, Campistol Jaume, Fons Carmen, Pias-Peleteiro Leticia, Brashear Allison, Miller Charlotte, Samões Raquel, Brankovic Vesna, Padiath Quasar S, Potic Ana, Pilch Jacek, Vezyroglou Aikaterini, Bye Ann M E, Davis Andrew M, Ryan Monique M, Semsarian Christopher, Hollingsworth Georgina, Scheffer Ingrid E, Granata Tiziana, Nardocci Nardo, Ragona Francesca, Arzimanoglou Alexis, Panagiotakaki Eleni, Carrilho Inês, Zucca Claudio, Novy Jan, Dzieżyc Karolina, Parowicz Marek, Mazurkiewicz-Bełdzińska Maria, Weckhuysen Sarah, Pons Roser, Groppa Sergiu, Sinden Daniel S, Pitt Geoffrey S, Tinker Andrew, Ashworth Michael, Michalak Zuzanna, Thom Maria, Cross J Helen, Vavassori Rosaria, Kaski Juan P, Sisodiya Sanjay M
Abstract excerpt
OBJECTIVE: To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. METHODS: Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were...
Read the complete abstract on PubMed