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Article

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Brain & development - 1 May 2018

Schirinzi Tommaso, Graziola Federica, Cusmai Raffaella, Fusco Lucia, Nicita Francesco, Elia Mirella, Travaglini Lorena, Bertini Enrico, Curatolo Paolo, Vigevano Federico, Capuano Alessandro

Abstract excerpt

BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease caused by mutations in ATP1A3 gene codifying for alpha3 subunit of Na+-K+ ATPase pump. Repeated and transient attacks of hemiplegia, usually affecting one side of the body or the other, or both sides of the body at once, are the core features of AHC. Monocular nystagmus, other abnormalities in ocular movements, dystonic posturing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29395663
DOI: 10.1016/j.braindev.2018.01.002

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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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