title: 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.affiliation: Division of Pediatric Neurology, University of Iowa Children's Hospital, Iowa City, IA, United States. Electronic address: charuta-joshi@uiowa.edu.
authors.forename: Charuta
authors.initials: C
authors.lastname: Joshi
authors.affiliation: Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States.
authors.forename: Diana L
authors.initials: DL
authors.lastname: Kolbe
authors.affiliation: Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States.
authors.forename: M Adela
authors.initials: MA
authors.lastname: Mansilla
authors.affiliation: Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States.
authors.forename: Sara
authors.initials: S
authors.lastname: Mason
authors.affiliation: Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States.
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.affiliation: Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States.
authors.forename: Colleen A
authors.initials: CA
authors.lastname: Campbell
mesh_terms: D003937:Diagnosis, Differential; D055423:Diet, Ketogenic; D004827:Epilepsy / Q000175:diagnosis / Q000178:diet therapy* / Q000209:etiology* / Q000235:genetics; D060005:Genotyping Techniques; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D035781:Siblings; D016896:Treatment Outcome
chemical_list: D008565:Membrane Proteins; C080086:phosphatidylinositol glycan-class A protein
keywords: Epileptic encephalopathy; Ketogenic diet; PIGA; Whole exome sequencing