Seizures and electroencephalographic findings in inborn errors of metabolism – Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature (2025) D. Kapoor

Description

Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti-seizure medication and might warrant initiation of specific treatments. This article aims to describe through a literature review, illustrated by videos and EEGs from personal cases, seizures, and EEG patterns in IEM, focusing on distinctive electro-clinical features that may help the clinician to establish an appropriate diagnosis and prompt specific treatment to improve outcome.