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

A, Vetro; HN, Nielsen; R, Holm; RF, Hevner; E, Parrini; Z, Powis; RS, Møller; C, Bellan; A, Simonati; G, Lesca; KL, Helbig; EE, Palmer; D, Mei; E, Ballardini; Haeringen A, Van; S, Syrbe; V, Leuzzi; G, Cioni; CJ, Curry; G, Costain; M, Santucci; K, Chong; GMS, Mancini; J, Clayton-Smith; S, Bigoni; IE, Scheffer; WB, Dobyns; B, Vilsen; R, Guerrini

doi:10.1093/brain/awab052

Public

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

Shared by NobleBlocks on Jun 1, 2021 • 12:00 AM UTC

Authors:

Vetro A

Nielsen HN

Holm R

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

Atp1a2

Atp1a3

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