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

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...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2021-05, Vol.144 (5), p.1435-1450
Hauptverfasser:	Vetro, Annalisa, Nielsen, Hang N, Holm, Rikke, Hevner, Robert F, Parrini, Elena, Powis, Zoe, Møller, Rikke S, Bellan, Cristina, Simonati, Alessandro, Lesca, Gaétan, Helbig, Katherine L, Palmer, Elizabeth E, Mei, Davide, Ballardini, Elisa, Haeringen, Arie Van, Syrbe, Steffen, Leuzzi, Vincenzo, Cioni, Giovanni, Curry, Cynthia J, Costain, Gregory, Santucci, Margherita, Chong, Karen, Mancini, Grazia M S, Clayton-Smith, Jill, A-Collaborators, Atp A/, Bigoni, Stefania, Scheffer, Ingrid E, Dobyns, William B, Vilsen, Bente, Guerrini, Renzo
Format:	Artikel
Sprache:	eng
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