Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
V Zimmern, B Minassian - Genes, 2024 - mdpi.com
The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature
both myoclonus and seizures that worsen gradually over a variable timeframe. While each of …
both myoclonus and seizures that worsen gradually over a variable timeframe. While each of …
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease
Purpose To evaluate the electro-clinical features in association with laboratory and
instrumental correlates of neurodegeneration to detect the progression of Lafora disease …
instrumental correlates of neurodegeneration to detect the progression of Lafora disease …
[HTML][HTML] Lafora disease
F Ibrahim, NI Murr - StatPearls [Internet], 2024 - ncbi.nlm.nih.gov
Objectives: Identify the clinical presentation and characteristic symptoms of Lafora disease.
Differentiate Lafora disease from other forms of progressive myoclonic epilepsy. Select …
Differentiate Lafora disease from other forms of progressive myoclonic epilepsy. Select …
Retinal Phenotyping of a Murine Model of Lafora Disease
Lafora disease (LD) is a progressive neurologic disorder caused by biallelic pathogenic
variants in EPM2A or EPM2B, leading to tissue accumulation of polyglucosan aggregates …
variants in EPM2A or EPM2B, leading to tissue accumulation of polyglucosan aggregates …