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

doi:10.1093/brain/awab052

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Article

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

Brain : a journal of neurology - 22 Jun 2021

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, Van Haeringen Arie, Syrbe Steffen, Leuzzi Vincenzo, Cioni Giovanni, Curry Cynthia J, Costain Gregory, Santucci Margherita, Chong Karen, Mancini Grazia M S, Clayton-Smith Jill, Bigoni Stefania, Scheffer Ingrid E, Dobyns William B, Vilsen Bente, Guerrini Renzo

Abstract excerpt

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...

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PMID: 33880529
DOI: 10.1093/brain/awab052

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