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 …

This second edition, which combines the features of an atlas and a textbook, presents
findings in forensic histology, immunohistochemistry, and cytology based on microscopic …

Myoclonus is a hyperkinetic movement disorder characterized by brief, involuntary muscular
jerks. Recognition of myoclonus and determination of the underlying aetiology remains …

Lafora progressive myoclonus epilepsy (LD) is a fatal autosomal recessive
neurodegenerative disorder characterized by the presence of glycogen-like intracellular …

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

The most common progressive myoclonus epilepsies are the late infantile and late infantile-
variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht …

Brain Glycogen Structure and Its Associated Proteins: Past, Present and Future | SpringerLink
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Background A 20-year-old woman presented to a specialist epilepsy center with a 3-year
history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive …

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