Metabolic pathways and genes involved in treatable and non-treatable metabolic epilepsies. A comprehensive review and metabolic pathway analysis.

Abstract

More than 600 different metabolic disorders can lead to a clinical picture, where seizures are a main neurological manifestation, either as the primary clinical finding or as a part of a more complex phenotype. For these metabolic disorders, the term "metabolic epilepsy" is commonly used. About one in six metabolic epilepsies is treatable, constituting a well-defined subset of metabolic disorders, which is amenable to treatment targeting the primary cause of the seizures and reducing or preventing associated complications. However, the majority of metabolic disorders currently lack effective treatment, making them a major challenge both in clinical practice and in research. Herein, we provide an overview of both treatable and non-treatable metabolic epilepsies and discuss our current understanding of these disorders. We also perform pathway analysis in order to compare the pathways in which the genes associated with treatable and non-treatable metabolic epilepsies take part. This approach may orientate the research to particular pathways and explore novel treatment algorithms.