The Infona portal uses cookies, i.e. strings of text saved by a browser on the user's device. The portal can access those files and use them to remember the user's data, such as their chosen settings (screen view, interface language, etc.), or their login data. By using the Infona portal the user accepts automatic saving and using this information for portal operation purposes. More information on the subject can be found in the Privacy Policy and Terms of Service. By closing this window the user confirms that they have read the information on cookie usage, and they accept the privacy policy and the way cookies are used by the portal. You can change the cookie settings in your browser.
The aim of this study was to preliminarily determine, in a short open study, the effectiveness of eslicarbazepine acetate (ESL) in two patients with severe myoclonic epilepsy of infancy (SMEI).We report on a 17-year-old Italian boy and a 21-year-old Italian girl with SMEI and a severe clinical outcome, in whom we identified two mutations (5053del AA fs1685X1691 and 931G>T E311X) in the alpha subunit...