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

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.

• Authors: Charuta Joshi, Diana L Kolbe, M Adela Mansilla, Sara Mason, Richard J H Smith, Colleen A Campbell
• Journal: Brain & development (Brain Dev) Vol. 38 Issue 9 Pg. 848-51 (Oct 2016) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 27126216 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Chemical References

• Membrane Proteins
• phosphatidylinositol glycan-class A protein

Topics

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