Dictionary of Human Evolution and Biology

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Epilepsy, Progressive Myoclonic 2

A neurological condition characterized by seizures (e.g. grand mal) caused by electrochemical discharges in the brain. One of about 12 recognized gene-based forms. This form is Aka LaFora disease, caused by mutations in the EPM2A gene that codes for Laforin, an autosomal recessive protein phosphatase that balances blood sugars in the brain. Highly variable age of onset. There is also a mitochondrial form (red ragged fibers).

Cf. essential tremor and Parkinson disease.

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