Myoclonus has different clinical and neurophysiological features in patients with Unverricht-Lundborg (ULD) and Lafora body disease (LBD), probably because of a different cortical hyperexcitability profile. To investigate the role of intracortical inhibition in such different presentations, we used paired-pulse transcranial magnetic stimulation...
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2010 (v1)PublicationUploaded on: April 14, 2023
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2019 (v1)Publication
Background: Magneto- and Electro-encephalography record the electromagnetic field generated by neural currents with high temporal frequency and good spatial resolution, and are therefore well suited for source localization in the time and in the frequency domain. In particular, localization of the generators of neural oscillations is very...
Uploaded on: April 14, 2023 -
2014 (v1)Publication
Objective: To identify the genetic cause of a familial formof late-onset action myoclonus in 2 unrelated patients. Both probands had 2 siblings displaying a similar disorder. Extensive laboratory examinations, including biochemical assessment for urine sialic acid in the 2 probands, were negative. Methods: Exome sequencing was performed in the...
Uploaded on: April 14, 2023 -
2020 (v1)Publication
The present work aims at validating a Bayesian multi-dipole modeling algorithm (SESAME) in the clinical scenario consisting of localizing the generators of single interictal epileptiform discharges from resting state magnetoencephalographic recordings. We use the results of Equivalent Current Dipole fitting, performed by an expert user, as a...
Uploaded on: April 14, 2023 -
2020 (v1)Publication
Objective: We evaluated four imaging techniques, i.e. Electroencephalography (EEG)-functional Magnetic Resonance Imaging (MRI) (EEG-fMRI), High-resolution EEG (HR-EEG), Magnetoencephalography (MEG) and 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography (PET), for the identification of the epileptogenic zone (EZ) in 41 patients with...
Uploaded on: April 14, 2023 -
2017 (v1)Publication
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...
Uploaded on: March 27, 2023