Abstracts

Rationale: Angelman syndrome (AS) is a neurodevelopmental disorder with a clear genetic loci, chromosome 15q11-13 deletion, characterized by developmental delay and refractory epilepsy. There is a paucity of data on epilepsy in adult patients with Angelman Syndrome.Methods: The epilepsy database at Creighton University epilepsy clinic was reviewed to find the adult patients with Angelman syndrome and epilepsy. Patients who were older than 18 years of age were defined as an adult. Four patients fulfilled these criteria and all patients had a genetic test confirming the diagnosis of Angelman syndrome. The patient's ranged in age from 21 years to 65 years. 2 were male and 2 were female. All patients have had epilepsy for more than 20 years. The EEGs were reviewed and the treatment outcomes were determined. Results: The EEG s, of these patients, revealed a common finding of bifrontal triphasic delta slowing. In three out of four patients there was brief burst of diffuse sharp and slow wave complexes. In one patient there was notched bifrontal delta slowing. All patients were on antiepileptic medications, ranging from 1-4 medications. Three out of four patients are seizure-free for over one year. One patient continues to have intractable epilepsy. One patient had atypical absence seizures only, 3 patients had a combination of atypical absence and generalized tonic-clonic seizures.Conclusions: This study shows that Epilepsy in adult patients with Angelman syndrome is characterized by seizures and EEG characteristics that are distinct from the pediatric patients with Angelman syndrome and epilepsy. The study also indicates that adult patients with Angelman syndrome who have epilepsy can be expected to have a good outcome in terms of seizure control.