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

Brain Dev. 2016 Oct;38(9):848-51. doi: 10.1016/j.braindev.2016.04.004. Epub 2016 Apr 25.

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.

Keywords: Epileptic encephalopathy; Ketogenic diet; PIGA; Whole exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Diet, Ketogenic*
  • Epilepsy / diagnosis
  • Epilepsy / diet therapy*
  • Epilepsy / etiology*
  • Epilepsy / genetics
  • Genotyping Techniques
  • Humans
  • Infant
  • Male
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Mutation
  • Pedigree
  • Siblings
  • Treatment Outcome

Substances

  • Membrane Proteins
  • phosphatidylinositol glycan-class A protein