Treatable inherited metabolic epilepsies

Abstract

Inherited metabolic epilepsies (IMEs) represent inherited metabolic disorders predominately presenting with seizures. While most IMEs are currently managed with symptomatic and supportive therapies, some are amenable to disorder-specific targeted treatments. In most cases, these treatments are effective only if given in a narrow time window early in the lives of affected patients. Hence, prompt recognition of treatable inherited metabolic epilepsies at an early age and as soon as symptoms appear has paramount importance. Herein, we provide an overview of inherited metabolic epilepsies, which presently have established targeted treatments showing clinical efficacy in reducing seizure burden and improving neurodevelopmental outcomes. These therapeutic modalities range from specific diets, vitamins, and supplementation of organic compounds to synthetic pharmacological agents and novel genetic-based therapies that alter the biochemical pathways of these disorders at the cellular or molecular level, steering them to their normal function.

Keywords: Epileptic encephalopathy; Inborn errors; Pediatric; Seizures; Treatment.