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Article

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.

Proceedings of the National Academy of Sciences of the United States of America - 22 Jun 2021

Smith Richard S, Florio Marta, Akula Shyam K, Neil Jennifer E, Wang Yidi, Hill R Sean, Goldman Melissa, Mullally Christopher D, Reed Nora, Bello-Espinosa Luis, Flores-Sarnat Laura, Monteiro Fabiola Paoli, Erasmo Casella B, Pinto E Vairo Filippo, Morava Eva, Barkovich A James, Gonzalez-Heydrich Joseph, Brownstein Catherine A, McCarroll Steven A, Walsh Christopher A

Abstract excerpt

Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+) and potassium (K+) ions across the plasma membrane, a function catalyzed by the Na+,K+-ATPase α-subunit. Here, we describe ATP1A3 variants encoding dysfunctional α3-subunits in children affected by polymicrogyria, a developmental malformation of the cerebral cortex characterized by abnormal folding and...

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Identifiers

PMID: 34161264
DOI: 10.1073/pnas.2023333118
PMCID: PMC8237684

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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