title: Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group.
abstract: The purpose of this symposium was to bring together the disciplines of clinical neurology and metabolic investigation and to present the most up-to-date information about specific metabolic disorders associated with infantile epilepsy. Understanding the etiology of seizures is the key to rational intervention. It is only with this insight that progress in the treatment of these patients can be made. In the past, many infantile epileptic syndromes were described by their clinical features, without understanding of the underlying pathophysiology. In the future, it is hoped that the genetic and metabolic bases of these syndromes will be more completely defined such that reliable diagnostic and effective treatment methods are available. Most of the tests listed in Table 2 should not be performed without due consideration of the history, clinical findings, and results of prior studies. This article is intended to aid clinicians in reviewing potential metabolic diagnoses and to approaching metabolic evaluations in an economical, logical, and comprehensive manner. Although the field of metabolic diseases may be in its infancy, many of these disorders can be identified and treated. The task for investigators is to provide the armamentarium of diagnostic tools to clinicians to ensure that a metabolic disorder is not overlooked. There must be a common ground that links clinicians and basic researchers in an evolving and collaborative manner.
authors.affiliation: Department of Pediatrics, Oregon Health and Science University, Portland, OR 97225, USA. buistn@ohsu.edu
authors.forename: Neil R M
authors.initials: NR
authors.lastname: Buist
authors.forename: Olivier
authors.initials: O
authors.lastname: Dulac
authors.forename: Teodoro
authors.initials: T
authors.lastname: Bottiglieri
authors.forename: Jutta
authors.initials: J
authors.lastname: Gärtner
authors.forename: Piero
authors.initials: P
authors.lastname: Rinaldo
authors.forename: Nicole I
authors.initials: NI
authors.lastname: Wolf
mesh_terms: D019411:Clinical Laboratory Techniques; D019937:Diagnostic Techniques and Procedures; D004827:Epilepsy / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology