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Definition

An autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum.

Acronym

EPM2

Synonyms

EPM2A
EPM2B
Lafora's disease
Lafora disease
LD
MELF
Myoclonic epilepsy of Lafora
Progressive myoclonic epilepsy 2
Progressive myoclonic epilepsy 2A
Progressive myoclonic epilepsy 2B
Progressive myoclonic epilepsy Lafora type

Keywords

Epilepsy

 
Disclaimer

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