Journal article

Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study

Simona Balestrini, Mohamad A Mikati, Reyes Alvarez-Garcia-Roves, Michael Carboni, Arsen S Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samoes, Vesna Brankovic Show all

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2020

Abstract

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 included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/-) to determine the sequence of events in seizure-related cardiac death. RESULTS: Ninety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnorm..

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Grants

Awarded by National Institute of Neurological Disorders and Stroke


Awarded by DFG-Grant


Awarded by National Heart, Lung, and Blood Institute grant


Awarded by British Heart Foundation


Funding Acknowledgements

This work was supported by the Epilepsy Society, UK. Part of this work was undertaken at University College London Hospitals, which received a proportion of funding from the National Institute for Health Research Biomedical Research Centres funding scheme. S. Balestrini was supported by the Muir Maxwell Trust. A. Brashear was supported by National Institute of Neurological Disorders and Stroke R01NS058949. J.H. Cross was supported through the National Institute for Health Research Biomedical Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. S. Groppa was supported by a DFG-Grant TR-128. Clinical and mouse work at Duke Medical Center was supported by Duke Institute of Brain Sciences, Duke Research and discretionary funds and by a donation from CureAHC Foundation. I.E. Scheffer was supported by the National Health and Medical Research Council of Australia. D. Sinden was supported by National Heart, Lung, and Blood Institute grant F30 HL131217. A. Tinker was funded by the British Heart Foundation (RG/15/15/31742) and facilitated by the National Institute for Health Research Barts Cardiovascular Biomedical Research Unit. K. Vezyroglou was supported by AHC UK. J.P. Kaski was supported through the National Institute for Health Research Biomedical Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London and by Max's Foundation (via the Great Ormond Street Hospital Children's Charity).