Angelman syndrome:: The electroclinical characteristics in 35 patients

Aims. The purpose of this study is to report on 35 patients with Angelman syndrome (AS) in whom we evaluated the electroclinical characteristics and the progression of their epilepsy. Patients and methods. The following factors were evaluated sex,family background, neurological examination, age at onset and semiology of the epileptic seizures, EEG, types of epilepsy according to the international classification and response to therapy. We investigated the karyotype, and conducted FISH and methylation tests for AS. Results. The 35 patients had an average follow-up time of 5.6 years. Epilepsy was diagnosed in 25 cases, with an average age of onset of 1.6 years. The epileptic syndromes were: epilepsy with myoclonic seizures in 13, of which seven presented a myoclonic state in their history, focal epilepsy in seven, West's syndrome in three, and Lennox-Gastaut syndrome in two. Intercritical EEG showed generalised MSW and SW paroxysms in 13, unilateral spikes in seven, hypsarrhythmia in three, generalised fast-rhythm paroxysms and slow SW activity in two. Basal electroencephalographic activity was: slow hypervoltage waves with or without inserted spikes situated at the rear in 19, at the front in six, diffuse in six, and normal in four cases. Conclusions. 71.4% of patients with AS suffered epileptic seizures; epilepsy with myoclonic seizures was the most frequently observed epileptic syndrome and hypervoltage slow wave activity with or without spikes inserted in the posterior quadrants was a characteristic encephalographic pattern. Inpatients with mental retardation, with or without epilepsy and these electroencephalographic findings, even in the absence of characteristic clinical signs, methylation and FISH analyses for AS should be performed.