Myoclonic epilepsy of Lafora (MELF), also known as Lafora disease, is an autosomal recessive and fatal form of progressive myoclonus epilepsy. MELF is characterised by epilepsy, myoclonus, progressive neurological deterioration, and the presence of glycogen-like intracellular inclusion bodies (Lafora bodies). Mutations in two genes, EPM2A and NHLRC1, have been shown to cause this disease. The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Epilepsy or seizures
8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy
H01994 Myoclonic epilepsy of Lafora
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.
