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Article

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

Brain & development - 1 Oct 2016

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27126216
DOI: 10.1016/j.braindev.2016.04.004

Genes

PIGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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