EPM1
EPM1, or epilepsy with myoclonic atonic seizures, is a rare genetic disorder characterized by recurrent seizures and sudden loss of muscle tone. It typically begins in childhood and can lead to developmental delays. The condition is often caused by mutations in the NHLRC1 gene, which plays a role in brain function.
Individuals with EPM1 may experience myoclonic jerks, where muscles twitch involuntarily, and atonic seizures, which result in sudden falls. Treatment usually involves medications to help control seizures, but there is currently no cure. Ongoing research aims to better understand the condition and improve management strategies.