Ketogenic diet–a novel treatment for early epileptic encephalopathy due to PIGA deficiency
C Joshi, DL Kolbe, MA Mansilla, S Mason… - Brain and …, 2016 - Elsevier
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.
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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