Article
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
Journal of human genetics - 1 Jan 2006
Ganesh Subramaniam, Puri Rajat, Singh Shweta, Mittal Shuchi, Dubey Deepti
Abstract excerpt
Lafora's disease (LD) is an autosomal recessive and fatal form of progressive myoclonus epilepsy with onset in late childhood or adolescence. LD is characterised by the presence of intracellular polyglucosan inclusions, called Lafora bodies, in tissues including the brain, liver and skin. Patients have progressive neurologic deterioration, leading to death within 10 years of onset. No preventive or curative...
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