Epilepsy and EEG features in Angelman syndrome

Abstract

Аngelman syndrome (AS) is an orphan disease caused by loss of function of the maternal allele of the UBE3A gene on chromosome 15 (region 15q11.2-q13), characterized by severe mental and speech retardation, movement disorders, unique behavior in the form of frequent laughter, and epileptic seizures with characteristic anomalies in EEG. Epilepsy is often drug-resistant, generalized seizure types dominate, among which myoclonic seizures and atypical absences are the most common. Infantile spasms are rare in AS children, but the EEG pattern, especially in infancy, in the form of diffuse slow-wave activity with multiregional and generalized epileptiform activity, may resemble a hypsarrhythmia pattern. We present own observation of a child in whom the EEG was incorrectly described as a hypsarrhythmia pattern, and hormonal therapy was prescribed with suspicion of epileptic spasms. In this article, we made a brief review of the literature on the treatment of epilepsy in AS patients with a recommended algorithm for choosing an antiepileptic drug (AED). In young children with developmental delay, a routine EEG pattern similar to hypsarrhythmia, but with out of clinical and EEG patterns of spasms, it is necessary to conduct video-EEG monitoring with recording of sleep, to exclude the “pseudo-hypsarrhythmia” pattern, which is especially important when Angelman syndrome is suspected. In the treatment of epilepsy in Angelman syndrome, it is necessary to adhere to the recommended, according to the literature, algorithm for choosing AEDs