The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant.

Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is the protein responsible for the first step in the biosynthesis of glycophosphatidylinositol (GPI)-anchored proteins, and a germline PIGA variant is one of the causative genes of inherited GPI deficiency [1]. Epileptic seizures, developmental delay, intellectual disability, and multiple malformations are common symptoms of patients with PIGA variant, with a high frequency of severe phenotype and a high mortality rate [2]. The majority of epilepsies in the PIGA variant have an early onset during infancy, and seizures are drug-resistant.