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

• DOI: 10.1016/j.braindev.2016.04.004
• Publication Date: 2016-04-30T18:07:28Z
• Authors: Charuta Joshi; Diana L. Kolbe; M. Adela Mansilla; Sara Mason; Richard J.H. Smith; Colleen A. Campbell
• Keywords: Male; Epilepsy; Genotyping Techniques; Siblings; Infant; Membrane Proteins; Pedigree; 3. Good health; Diagnosis, Differential; 03 medical and health sciences; Treatment Outcome; 0302 clinical medicine; Mutation; Humans; Diet, Ketogenic

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.