Objective: To explore the course of Unverricht-Lundborg disease (EPM1) and identify the risk factors for severity, we investigated the time course of symptoms and prognostic factors already detectable near to disease onset. Methods: We retrospectively evaluated the features of 59 Italian patients carrying the CSTB expansion mutation, and coded...
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2017 (v1)PublicationUploaded on: March 27, 2023
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2021 (v1)Publication
Background and Objectives To assess the current diagnostic yield of genetic testing for the progressive myoclonus epilepsies (PMEs) of an Italian series described in 2014 where Unverricht-Lundborg and Lafora diseases accounted for;50% of the cohort. Methods Of 47/165 unrelated patients with PME of indeterminate genetic origin, 38 underwent new...
Uploaded on: April 14, 2023 -
2021 (v1)Publication
Background: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. This complex neurodegenerative condition is caused by pathogenic variants in EPM2A/EPM2B genes, encoding two essential glycogen metabolism enzymes known as laforin and malin. Long-term follow-up data are lacking. We...
Uploaded on: April 14, 2023 -
2019 (v1)Publication
Perampanel (PER) is a novel anti-seizure medication useful in different types of epilepsy. We intended to assess the effectiveness of PER on cortical myoclonus and seizure frequency in patients with progressive myoclonus epilepsy (PME), using quantitative validated scales. Forty-nine patients aged 36.6 ± 15.6 years with PME of various aetiology...
Uploaded on: April 14, 2023