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Updated: Mar 22, 2026

A Piglet Model of Neonatal Hypoxic-Ischemic Encephalopathy
Published on: May 16, 2015
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency
Charuta Joshi1, Diana L Kolbe2, M Adela Mansilla2
1Division of Pediatric Neurology, University of Iowa Children's Hospital, Iowa City, IA, United States.
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.
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