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- W2344448306 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." @default.
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- W2344448306 date "2016-10-01" @default.
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- W2344448306 title "Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency" @default.
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- W2344448306 doi "https://doi.org/10.1016/j.braindev.2016.04.004" @default.
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