Angelman Syndrome (AS) is a neurogenetic disorder caused by multiple genetic mechanisms, all of wich affect the chromosome 15q11-q13: deletion, paternal uniparental disomy (UPD), imprinting center abnormalities (ICAs) and UBE3A mutations. The vast majority of AS patients (90% of cases) shows epilepsy during the disease course; EEG is usually characterized by rhythmic 2-3 Hz delta waves of high amplitude that are more evident upon the frontal regions and 3-4 Hz spikes and sharp wave runs posteriorly. EEG pattern can be a useful diagnostic tool. Five patients were included in this study (3 males, 2 females): median age 6.2 years (range 2y1m-14y5m). All patients underwent EEG recordings and neuroimagings (Magnetic Resonance Imaging, MRI, and Computed Tomography, CT). All patients showed developmental delay and early-onset epilepsy (median age at first seizure 22 months, range 20d-3y7m). All 5 patients showed an EEG pattern characterized by high amplitude generalized monomorphic delta-waves and generalized epileptiform discharges. With the limits given by the paucity of our sample, we didn't find significant correlation between epileptic phenotypes and genotypes, differently from the literature where a major severity of clinical picture in those with deletions has been recently described. All of our patients showed a suggestive EEG pattern; sometimes, a peculiar EEG picture in a patient with evidence of psychomotor delay may anticipate diagnosis. This is particularly important in cases with negative FISH and methilation examinations, since UBE3A molecular test may be expensive and it requires a strong clinical suspect. Implications for genetic counselling is evident.
|Translated title of the contribution||Angelman syndrome: EEG's role|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2010|
ASJC Scopus subject areas
- Clinical Neurology