EPM2A

EPM2A (Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin)): EPM2A encodes laforin, a phosphatase involved in glycogen metabolism. Mutations in EPM2A cause Lafora disease, a rare, fatal form of progressive myoclonus epilepsy. Laforin's role in dephosphorylating glycogen is crucial for preventing the formation of Lafora bodies, insoluble glycogen inclusions that are neurotoxic. The loss of EPM2A function underscores its critical role in neuronal health and highlights the impact of metabolic regulation on neurodegenerative diseases....