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What is Lafora's disease presents with? and explain in detail?
Lafora's disease - It is a progressive myoclonic epilepsy with AR inheritance. -Onset: 6-19 years -Death within 10 years -Brain degeneration a/w polyglucosan intracellular inclusion bodies in numerous organs. - IOC: DNA sequencing which shows abnormality in EPM2A and EPM2B gene. -Demonstration of Lafora bodies within the apocrine sweat gland of the skin is seen by an axillary skin biopsy examination. -Rx: Zonisamide