LaFora disease (LD) is a rare, lethal, progressive myoclonus epilepsy which no targeted therapies currently available. Studies in mouse models of LD showed a good
Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.
LaFora progressive myoclonus epilepsy is a rare neurodegenerative disorder characterized by the accumulation fatal dissolve abnormal glycogen deposits in the brain and peripheral tissues .
AIMTo describe the pattern of brain glucose metabolism assessed by 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) in LaFora disease (LD), a rare, deadly form of progressive
We report an atypical presentation LaFora disease in a Senegalese girl carrying homozygous variant, c.560A> C, in the gene NHLRC1. At 13 years, patients developed
Background: LaFora progressive myoclonus epilepsy (LaFora disease) is usually time-onset, fatal neurodegenerative disease caused by a mutation rare biallelic in EPM2A (Laforin) or EPM2B (NHLRC1,