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 …

Reversible tyrosine phosphorylation of proteins is a key regulatory mechanism to steer
normal development and physiological functioning of multicellular organisms …

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

Background Clinical signs and their progression in Beagles with Lafora disease are poorly
described. Objectives To describe clinical signs in Beagles with Lafora disease. Animals …

Abstract Background and Purpose Lafora disease (LD) is a very rare autosomal recessive
disorder manifesting primarily as fatal, congenital, and neurodegenerative epilepsies. We …

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 …

Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease [LD]) is
characterized by focal occipital seizures presenting as transient blindness or visual …

Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no
effective therapy. Although the outcome is always unfavorable, onset of symptoms and …