Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency

Charuta Joshi, Diana L. Kolbe, M. Adela Mansilla, Sara Mason, Richard J.H. Smith, Colleen A. Campbell

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

We describe the presentation and workup of two brothers with early-onset epileptic encephalopathy who became seizure-free on a ketogenic diet. Extensive testing culminated in whole exome sequencing, which led to the diagnosis of phosphatidyl inositol glycan biosynthesis class A protein (PIGA) deficiency. This familial case highlights the importance of genetic testing for early-onset epileptic encephalopathies and underscores the potential value of a ketogenic diet in the treatment of this condition.

Original languageEnglish (US)
Pages (from-to)848-851
Number of pages4
JournalBrain and Development
Volume38
Issue number9
DOIs
StatePublished - 2016
Externally publishedYes

Keywords

  • Epileptic encephalopathy
  • Ketogenic diet
  • PIGA
  • Whole exome sequencing

ASJC Scopus subject areas

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

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