Epileptiform Discharges in a Patient with Angelman Syndrome - Abstract
In this paper, we describe a 42-year old woman with intellectual disability of unknown origin, epilepsy and treatment resistant neuropsychiatric symptoms, who was bed-ridden for decades until the identification of the underlying genetic syndrome, Angelman syndrome, as well as the recognition of the specific epilepsy syndrome, myoclonic status in non-progressive syndrome, and the initiation of an orphan antiepileptic drug, stiripentol, with good response.