Journal article

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

Annalisa Vetro, Hang N Nielsen, Rikke Holm, Robert F Hevner, Elena Parrini, Zoe Powis, Rikke S Moller, Cristina Bellan, Alessandro Simonati, Gaetan Lesca, Katherine L Helbig, Elizabeth E Palmer, Davide Mei, Elisa Ballardini, Arie Van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J Curry, Gregory Costain Show all

BRAIN | OXFORD UNIV PRESS | Published : 2021

Abstract

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebellar ataxia (all ATP1A3). A few reports have described single individuals with heterozygous mutations of ATP1A2/A3 associated with severe childhood epilepsies. Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have been associated with homozygous truncating mutations in ATP1A2. We investig..

View full abstract

University of Melbourne Researchers

Grants

Awarded by Lundbeck Foundation


Awarded by Danish Medical Research Council


Awarded by European Union Seventh Framework Programme FP7/2013 under the project DESIRE


Awarded by Italian Ministry of Health


Awarded by Tuscany Region


Awarded by National Health and Medical Research Council of Australia


Funding Acknowledgements

This work was supported by grants to B.V. from the Lundbeck Foundation (grant R223-2016-595) and the Danish Medical Research Council (grant 7016-00193B), grants to R.G. from the European Union Seventh Framework Programme FP7/2013 under the project DESIRE (grant 602531), the Italian Ministry of Health and Tuscany Region (grant RF-2013-02355240), the Tuscany Region Call for Health 2018 (grant DECODE EE) and grants to I.E.S. from the National Health and Medical Research Council of Australia (grants APP1091593, APP1104831).