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Article

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Pediatric neurology - 1 Apr 2014

Ulate-Campos Adriana, Fons Carmen, Artuch Rafael, Castejón Esperanza, Martorell Loreto, Ozelius Laurie, Pascual Juan, Campistol Jaume

Abstract excerpt

BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare condition characterized by an early onset of hemiplegic episodes and other paroxysmal or permanent neurological dysfunctions. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. Regarding the differential diagnosis of AHC, glucose transporter 1 deficiency syndrome may be considered because these two disorders...

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Identifiers

PMID: 24491413
DOI: 10.1016/j.pediatrneurol.2013.11.017

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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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