Affiliations: Department of Neurology, University of Campinas (Unicamp), Campinas, Brazil | Department of Medical Genetics, University of Campinas (Unicamp), Campinas, Brazil
Note:  Corresponding author: Marilisa M. Guerreiro, Department of Neurology - FCM – Unicamp, Rua Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, 13083-887. Campinas, São Paulo, Brazil. Tel.: +55 19 3521 7372; Fax: +55 19 3521 7483; E-mail: [email protected]
Abstract: We studied 14 patients with severe myoclonic epilepsy of infancy (SMEI), mean age ± SD 8.5 ± 4.14 yr, 10 girls, and 13 patients with myoclonic astatic epilepsy (MAE), mean age ± SD 11.8 ± 5.19 yr, six girls. All patients underwent EEGs, cranial magnetic resonance imaging (MRI) and the Vineland scale for assessment of adaptive behavior in areas related to communication, activities of daily living, socialization, and motor skills. Our study revealed abnormalities in the neurological examination (ataxia, mild pyramidal tract abnormalities, hyperactivity, autism spectrum disorder) in all 14 patients with SMEI and 4 of the 8 patients with MAE. EEGs showed background slowing, and focal and generalized epileptiform activity in 10 patients with SMEI. In patients with MAE EEGs showed monomorphic centroparietal theta rhythm in nine patients, and generalized epileptiform activity in all patients. Deterioration of adaptive behavior occurred in all the patients with SMEI and in eight patients with MAE. SMEI and MAE showed clinical and EEG findings according to those previously described. Nevertheless, severe epileptic encephalopathy was detected in patients with SMEI while patients with MAE presented with a milder form of epileptic encephalopathy. The outcome was good in approximately one third of the patients with MAE.