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 (PIG...

Ausführliche Beschreibung