<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

Vetro, Annalisa; N. Nielsen, Hang; Holm, Rikke; F. Hevner, Robert; Parrini, Elena; Powis, Zöe; S. Møller, Rikke; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaëtan; L. Helbig, Katherine; E. Palmer, Elizabeth; Mei, Davide; Ballardini, Elisa; van Haeringen, Arie; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; J. Curry, Cynthia; Costain, Gregory; Santucci, Margherita; Chong, Karen; M.S. Mancini, Grazia; Clayton‐Smith, Jill; Bigoni, Stefania; E. Scheffer, Ingrid; B. Dobyns, William; Vilsen, Bente; Guerrini, Renzo; , ATP1A2/A3-collaborators; Sanlaville, Damien; Sachdev, Rani; Andrews, Ian; Mari, Francesco; Cavalli, A; Barba, Carmen; De Maria, Beatrice; Garani, Giampaolo; R. Lemke, Johannes; Mastrangelo, Mario; Tam, Emily; Donner, Elizabeth; M. Branson, Helen; Paoli Monteiro, Fabíola; Kok, Fernando; B. Howell, Katherine; L. Leech, Stephanie; C. Mefford, Heather; M. Muir, Alison

doi:10.1093/brain/awab052

Public

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

Published in Brain • Feb 10, 2021

Authors:

Annalisa Vetro

Hang N. Nielsen

Rikke Holm

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 ata...

Subject

Polymicrogyria

Psychology

Epilepsy

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!