Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The
disease usually manifests in previously healthy adolescents, and death commonly occurs …

Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that
manifests as severe epilepsy. LD results from mutations in the gene encoding either the …

Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the
EPM2A or EPM2B gene. A hallmark of LD is the intracellular accumulation of insoluble …

The overaccumulation of glycogen appears as a hallmark in various glycogen storage
diseases (GSDs), including Pompe, Cori, Andersen, and Lafora disease. Accumulating …

Lafora disease (LD) is a fatal intractable adolescence-onset progressive myoclonus
epilepsy. Recently, two single-case studies reported drastic reductions in seizures and …

Lafora disease is a fatal progressive myoclonus epilepsy. At root, it is due to constant
acquisition of branches that are too long in a subgroup of glycogen molecules, leading them …

Many adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9
biotechnology holds great promise in neurological therapy, pending the clearance of major …

Glycogen dysregulation is a hallmark of aging, and aberrant glycogen drives metabolic
reprogramming and pathogenesis in multiple diseases. However, glycogen heterogeneity in …

Lafora disease (LD) is one of the progressive and fatal forms of a neurodegenerative
disorder and is characterized by teenage-onset myoclonic seizures. Neuropathological …

Glycogen is present in the brain at much lower concentrations than in muscle or liver.
However, by characterizing an animal depleted of brain glycogen, we have shown that the …