Patogenesi dell'epilessia nei disturbi congeniti del metabolismo

Translated title of the contribution: Pathogenesis of epileptic seizures due to inborn errors of metabolism

Research output: Contribution to journalArticlepeer-review


Inborn errors of metabolism (IEM) can cause onset of epilepsy in the first year of life. Epilepsy rarely dominantes the clinical presentation, which is more frequently associated with other neurologic symptoms, such as mental retardation, hypotonia and/or dystonia, or vigilance disturbances. The pathogenesis of seizures is multifaceted; IEM can affect the balance between excitatory and inhibitory chemical mediators, eliminate an energetic substrate at the cerebral level, cause in utero brain malformation, provoke acute or progressive brain lesions. Some clinical dosorders that strongly suggest particular metabolic etiologies can be identified. In most cases, however, epilepsy secondary to IEM presents with polymorphic clinical and EEG features that are difficult to classify into precise epileptic syndromes.

Translated title of the contributionPathogenesis of epileptic seizures due to inborn errors of metabolism
Original languageItalian
Pages (from-to)199-201
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number118
Publication statusPublished - Oct 2002

ASJC Scopus subject areas

  • Clinical Neurology


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