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.

Source: Seizure: European Journal of Epilepsy - August 7, 2023 Category: Neurology Authors: Azusa Ikeda, Hiroyuki Nagafuchi, Yumi Enomoto, Kenji Kurosawa, Yu Tsuyusaki, Megumi Tsuji, Tomohide Goto Tags: Clinical letter Source Type: research