Alternating hemiplegia of childhood with a de novo mutation in atp1a3 and changes in SLC2A1 responsive to a ketogenic diet

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

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

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 share some paroxystic and nonparoxystic features. Patient and results We report a typical case of AHC harboring a de novo mutation in the ATP1A3 gene, together with a duplication and insertion in the SLC2A1 gene who exhibited marked clinical improvement following ketogenic diet. Conclusion Because the contribution of the SLC2A1 mutation to the clinical phenotype cannot be definitely demonstrated, the remarkable clinical response after ketogenic diet led us to the hypothesis that ketogenic diet might be effective in AHC as it provides an alternative energy source for the brain.

Original languageEnglish (US)
Pages (from-to)377-379
Number of pages3
JournalPediatric Neurology
Volume50
Issue number4
DOIs
StatePublished - Apr 2014

Keywords

  • ATP1A3
  • GLUT1 DS
  • GLUT1 deficiency syndrome
  • SLC2A1
  • alternating hemiplegia of childhood
  • ketogenic diet

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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