Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3036429 | Brain and Development | 2016 | 4 Pages |
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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Authors
Charuta Joshi, Diana L. Kolbe, M. Adela Mansilla, Sara Mason, Richard J.H. Smith, Colleen A. Campbell,