Neurometabolic diseases (NMD) are a frequent cause of epilepsy in children. Epilepsy is more frequently part of a complex clinical picture than a predominant symptom and may be of different types and various EEG patterns. The primary goal of this article is, departing from a large personal series, to describe the seizure type, EEG patterns and response to antiepileptic drugs in NMD and to discuss clinical value of epilepsy type in the setting of specific NMD. We found epilepsy was associated to NMD in 43.1%. Disorders of energy metabolism were the most frequent cause of epilepsy (61.3%). We observed generalized epilepsy in 75% of the patients with partial epilepsy in 25%. EEG was abnormal in only 71% of cases with variable patterns. Resistance to antiepileptic drugs was observed in 75% of cases. Valproate acid was incriminated in seizure worsening in 22.7% of the patients, all of them affected by mitochondriopathies.
KeywordsNeurometabolic DiseasesEpilepsyEEG
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