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 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 …

Objective: Glycogen, the largest cytosolic macromolecule, acquires solubility, essential to its
function, through extreme branching. Lafora bodies are aggregates of polyglucosan, a long …

Lafora progressive myoclonus epilepsy is an autosomal recessive, fatal, generalized
polyglucosan storage disorder that occurs in childhood or adolescence with stimulus …

Abstract Lafora disease (LD, OMIM 254780, ORPHA501) is a fatal neurodegenerative
disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora …

Lafora disease (LD), an autosomal recessive neurodegenerative disorder, is characterized
by the presence of cytoplasmic polyglucosan inclusions known as Lafora bodies in several …

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

Lafora disease (LD) is a life-threatening autosomal recessive and progressive
neurodegenerative disorder that primarily affects adolescents, resulting in mortality within a …

Lafora disease (LD) is an autosomal recessive progressive myoclonic epilepsy
characterized by the presence of intracellular polyglucosan inclusions commonly known as …