EPM1 Gene

The EPM1 gene is responsible for producing a protein called "epilepsy, progressive myoclonic 1," which plays a crucial role in communication between brain cells. Mutations in this gene can lead to a condition known as "progressive myoclonus epilepsy type 1," characterized by seizures, muscle jerks, and progressive neurological decline. This genetic disorder typically manifests in childhood or adolescence. Understanding the EPM1 gene helps researchers develop potential treatments and improve patient outcomes for those affected by this serious condition.