Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

Abstract excerpt

Lafora progressive myoclonus epilepsy, also known as Lafora disease (LD), is the most severe and fatal form of progressive myoclonus epilepsy with its typical onset during the late childhood or early adolescence. LD is characterized by recurrent epileptic seizures and progressive decline in intellectual function. LD can be caused by defects in any of the two known genes and the clinical features of these two...

Topics

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• Adolescent
• Carrier Proteins
• Child
• Lafora Disease
• Mutation
• Phenotype