title: Occasional seizures, epilepsy, and inborn errors of metabolism.
abstract: Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement disorders, and cognitive disturbances. However, the occurrence of epilepsy associated with inborn errors of metabolism represents a major challenge that needs to be identified quickly; for some cases, specific treatments are available, metabolic decompensation might be avoided, and accurate counselling can be given about recurrence risk. Some clinical presentations are more likely than others to point to an inborn error of metabolism as the cause of seizures. Knowledge of important findings at examination, and appropriate biochemical investigation of children with seizures of uncertain cause, can aid the diagnosis of an inborn error of metabolism and ascertain whether or not the seizures are amenable to specific metabolic treatment.
authors.affiliation: Paris Descartes University, Inserm U1129, Paris, France; CEA, Gif-sur-Yvette, France; Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France. Electronic address: olivier.dulac63@gmail.com.
authors.forename: Olivier
authors.initials: O
authors.lastname: Dulac
authors.affiliation: Department of Child Neurology, University Children's Hospital, University of Zurich, Switzerland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Plecko
authors.affiliation: Inserm U1129, Paris, France.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Gataullina
authors.affiliation: Department of Child Neurology, VU University Medical Center, Amsterdam, Netherlands; Neuroscience Campus Amsterdam, Amsterdam, Netherlands.
authors.forename: Nicole I
authors.initials: NI
authors.lastname: Wolf
mesh_terms: D000818:Animals; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*