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

Charuta Joshi; Diana L Kolbe; M Adela Mansilla; Sara Mason; Richard J H Smith; Colleen A Campbell

doi:10.1016/j.braindev.2016.04.004

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

Journal article

Peer reviewed

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

Charuta Joshi, Diana L Kolbe, M Adela Mansilla, Sara Mason, Richard J H Smith and Colleen A Campbell

Brain & development (Tokyo. 1979), Vol.38(9), pp.848-851

10/2016

DOI: 10.1016/j.braindev.2016.04.004

PMID: 27126216

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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.

Diagnosis, Differential

Diet, Ketogenic

Membrane Proteins - genetics

Humans

Infant

Male

Treatment Outcome

Genotyping Techniques

Epilepsy - diet therapy

Epilepsy - etiology

Epilepsy - diagnosis

Membrane Proteins - deficiency

Pedigree

Epilepsy - genetics

Mutation

Siblings

Details

Title: Subtitle: Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency
Creators: Charuta Joshi - Division of Pediatric Neurology, University of Iowa Children's Hospital, Iowa City, IA, United States. Electronic address: charuta-joshi@uiowa.edu
Diana L Kolbe - Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
M Adela Mansilla - Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Sara Mason - Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Richard J H Smith - Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Colleen A Campbell - Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Resource Type: Journal article
Publication Details: Brain & development (Tokyo. 1979), Vol.38(9), pp.848-851
DOI: 10.1016/j.braindev.2016.04.004
PMID: 27126216
NLM abbreviation: Brain Dev
ISSN: 0387-7604
eISSN: 1872-7131
Publisher: Netherlands
Grant note: name: University of Iowa Carver College of Medicine
Language: English
Date published: 10/2016
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Cardiovascular Medicine; Otolaryngology; Internal Medicine; Iowa Institute of Human Genetics
Record Identifier: 9984007294502771

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