Metabolic causes of epilepsy

Laura Papetti, Francesco Nicita, Stella Maiolo, Vincenzo Leuzzi, Alberto Spalice

Research output: Chapter in Book/Report/Conference proceedingChapter


Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signatures. The diagnosis of a genetic defect or an inborn error of metabolism often results in requests for a vast array of biochemical and molecular tests leading to an expensive workup. However a specific diagnosis of metabolic disorders in epileptic patients may provide the possibility of specific treatments that can improve seizures. In a few metabolic diseases, epilepsy responds to specific treatments based on diet or supplementation of cofactors (vitamin-responsive epilepsies), but for most of them specific treatment is unfortunately not available, and conventional antiepileptic drugs must be used, often with no satisfactory success. In this review we present an overview of metabolic epilepsies based on various criteria such as treatability, age of onset, seizure type, and pathogenetic background.

Original languageEnglish
Title of host publicationEpilepsy Towards the Next Decade: New Trends and Hopes in Epileptology
PublisherSpringer International Publishing
Number of pages29
ISBN (Print)9783319122830, 9783319122823
Publication statusPublished - Jan 1 2015

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)
  • Psychology(all)


Dive into the research topics of 'Metabolic causes of epilepsy'. Together they form a unique fingerprint.

Cite this