作者: Laura Papetti , Francesco Nicita , Stella Maiolo , Vincenzo Leuzzi , Alberto Spalice
DOI: 10.1007/978-3-319-12283-0_5
关键词:
摘要: Inborn errors of metabolism comprise a large class genetic diseases involving disorders metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even adulthood. Seizures are frequent symptom inborn metabolism, with no specific seizure types EEG signatures. The diagnosis defect an error often results requests for vast array biochemical and molecular tests leading to expensive workup. However metabolic epileptic patients may provide possibility treatments that improve seizures. In few diseases, epilepsy responds based on diet supplementation cofactors (vitamin-responsive epilepsies), most them treatment unfortunately not available, conventional antiepileptic drugs must be used, satisfactory success. this review we present overview epilepsies various criteria such as treatability, age onset, type, pathogenetic background.