Article ID Journal Published Year Pages File Type
3036429 Brain and Development 2016 4 Pages PDF
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.
Related Topics
Life Sciences Neuroscience Developmental Neuroscience
Authors
, , , , , ,