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When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease. [PDF]

Neurotherapeutics
Riva A, Striano P.
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PROGRESSIVE MYOCLONUS EPILEPSY

Acta Neurologica Scandinavica, 2009
The purpose of the present study was to describe the characteristic features of the PME syndrome and their development during the progression of the disease, as well as to clarify the possible division of the patients into groups without interdependence on the basis of the EEG findings.
M, Koskiniemi, E, Toivakka, M, Donner
openaire   +4 more sources

Neurophysiology of myoclonus and progressive myoclonus epilepsies

Epileptic Disorders, 2016
AbstractThe high temporal resolution of neurophysiological recordings makes them particularly suited to faithfully describing the time course of rapid events such as myoclonus and to precisely measure its time relationship with other related activities.
Giuliano, Avanzini, Hiroshi, Shibasaki, Guido, Rubboli, Laura, Canafoglia, Ferruccio, Panzica, Silvana, Franceschetti, Mark, Hallett   +6 more
openaire   +2 more sources

Progressive myoclonus epilepsy in a beagle

Journal of Small Animal Practice, 2003
A nine‐year‐old, neutered female beagle was presented with a history of progressive myoclonic jerks. Clinical signs included mental depression and paroxysmal jerks of the head and forelimbs, apparently elicited by changes in light, noise or movements. Electroencephalographic findings were in accordance with myoclonus epilepsy.
H, Gredal, M, Berendt, P S, Leifsson
openaire   +3 more sources

Progressive myoclonus epilepsy

2013
The progressive myoclonus epilepsies (PMEs) consist of a group of diseases with myoclonic seizures and progressive neurodegeneration, with onset in childhood and/or adolescence. Lafora disease is a neuronal glycogenosis in which normal glycogen is transformed into starch-like polyglucosans that accumulate in the neuronal somatodendritic compartment. It
Jean-Marie, Girard, Julie, Turnbull, Nivetha, Ramachandran, Berge A, Minassian   +3 more
openaire   +2 more sources

Analysis of Sleep in the Progressive Myoclonus Epilepsy

European Neurology, 2008
Analysis of sleep in the progressive myoclonus ...
Gambi, D, Ferro, Fm, Mazza, Salvatore
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Progressive Myoclonus Epilepsies

Journal of Clinical Neurophysiology, 1991
Diagnosis and management of the progressive myoclonus epilepsies (PMEs) provides a challenge to the clinician and neurophysiologist. Over 15 specific disorders can cause the PME syndrome; all are rare, and individual physicians are unlikely to have experience in all of them.
S F, Berkovic, N K, So, F, Andermann
openaire   +2 more sources