Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to
mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype …

Lafora disease (LD) is an autosomal recessive and fatal form of progressive myoclonus
epilepsy. LD patients manifest myoclonus and tonic–clonic seizures, visual hallucinations …

Cori's disease is a glycogen storage disorder characterized by a deficiency in the glycogen
debranching enzyme, amylo-1, 6-glucosidase, 4-α-glucanotransferase (AGL). Here, we …

Background Lafora progressive myoclonus epilepsy (Lafora disease; LD) is a fatal
autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in …

Background Lafora disease (LD) is a rare fatal autosomal recessive form of progressive
myoclonus epilepsy. It affects previously healthy children or adolescents, causing …

Patients with Lafora disease have a mutation in EPM2A or EPM2B, resulting in
dysregulation of glycogen metabolism throughout the body and aberrant glycogen …

Purpose: Lafora disease (LD) is an autosomal recessive form of progressive myoclonus
epilepsy with onset in childhood or adolescence and with fatal outcome caused by …

We focus on hepatic inclusions, which are defined as intracellular aggregates of stainable
substances. They represent established hallmarks of their respective human disorders, but …

Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may
also be considered as a disorder of carbohydrate metabolism because of the formation of …

Canine Lafora disease (LD) is an autosomal recessive genetic disorder causing nonfatal
structural epilepsy, mainly affecting miniature wirehaired dachshunds. Repeat expansion in …