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 …

Glycogen synthesis is normally absent in neurons. However, inclusion bodies resembling
abnormal glycogen accumulate in several neurological diseases, particularly in progressive …

Recent years have witnessed an increased interest from pediatric neurologists,
neuropediatricians, epileptologists and general neurologists in the use of the ketogenic diet …

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 …

Lafora disease is the most common teenage-onset neurodegenerative disease, the main
teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest …

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 (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive
neurodegenerative disorder resulting from defects in the EPM2A gene. EPM2Aencodes a …

Dogs with spontaneous diseases can exhibit a striking similarity in etiology, clinical
manifestation, and disease course when compared to human patients. Therefore, dogs are …