Abstracts

Rationale: The MECP2 gene duplication syndrome is characterized by severe mental retardation, infantile hypotonia, progressive spasticity, recurrent infections (71%) and seizures (above 50%). Only a few cases with epilepsy are described in literature (n=15).Methods: We conducted a retrospective study in 4 child neurology Dpt in France. 8 boys with the MECP2 gene duplication and epilepsy were included (Median age: 10y). We evaluated the charts and the EEG recordings. The patients have been seen at follow-up.Results: There is no common electro-clinical phenotype for the 8 patients. For all of them, the first seizures occur in childhood after the age of 2 years (median age:6y). Half of the patients exhibit late onset epileptic spasms. 6 of them are drug resistant. EEG recording done before the first seizure was abnormal in 4/7 cases. After the start of the epilepsy, all EEG recordings were abnormal without any specific pattern. Valproate and Lamotrigine are the most frequently used AED.Conclusions: Epilepsy is common in patients with a duplication of gene MECP2. The common characteristic is the childhood s beginning. In half of the patients, the electroclinical features are close to epileptic syndrome described as late onset epileptic spasms. There are no typical EEG patterns as observed in genetic syndrome like Angelman syndrome. Refractory epilepsy is frequent.