Abstracts

Rationale: Angelman Syndrome( AS ) is a neurogenetic disorder characterized by mental delay, dismorphyc face, limited or absent language ,ataxia, movement disorder and epilepsy. Epilepsy is a clinical hallmark in 90% of patients with polymorphic seizures ( focal , absence, myoclonic and myoclonic- atonic seizures) with age onset at two years of life. Epileptic myclonic state(SE ) or epilepsic state can be present in AS with variable lasting from some hours to days. Epileptic states are often underestimated for their blurred presentation such as behaviour changes, like to fall in a state of apathy, a worsening of motor abilities with localized myoclonias. |Here we aimed to study , in our AS case series, the frequency of epileptic state and its clinical presentation Methods: From June 1988 to December 2006, we collected 61 patients (twenty nine male, thirty two female, with a mean age at last observation of 11 years , range 5 months to 29 years) who received a diagnosis AS after a comprehensive clinical, neuroradiological and laboratory investigations. Laboratory investigation included detailed genetic test. Long lasting Video/EEG analysis was performed in all case. Among all case of AS we selected a subgroup of 19 patients with epileptic state ,recorded by VIDEO /EEG study. Results: The 31% (19/61) of patients with Angelman Syndrome showed epileptic states characterized by clinical blurred outlines such as behaviour changes, like to fall in a state of apathy, a worsening of motor abilities with localized myoclonias. The electroclinical picture in all patients with SE showed continuous epileptic activity of widespread spike-waves and poly-spike waves with a predominance on frontal regions. Genetic investigation showed a deletion of chromosome 15q11 q13 in sixteen patients, a mutation of UBE3A gene in two, and was negative in one patient. Conclusions: In conclusion, we have described a relative high frequency (31%) of epileptic state in the context of Angelman Syndrome characterized by slight clinical presentation such as behaviour changes, like to fall in a state of apathy, a worsening of motor abilities with localized myoclonias. Epileptologists should be aware of these peculiar SE as, in most instances, it could be underestimated.