EPM2A : EPM2A glucan phosphatase, laforin
Laforin: The Gatekeeper of Neurons and Glycogen Metabolism
Description:
The EPM2A gene holds the blueprint for laforin, a protein vital for the well-being of our nervous system. Although present in cells throughout the body, laforin is particularly crucial for the survival of neurons in the brain.
Associated Diseases:
Mutations in the EPM2A gene lead to a rare but debilitating disease called Lafora disease. Patients with Lafora disease develop progressive epilepsy and myoclonus (involuntary muscle spasms) in their adolescence. As the disease progresses, cognitive decline and dementia set in.
Did you Know ?
Lafora disease is exceedingly rare, affecting approximately 1 in 100,000 people worldwide. However, it is the most common form of progressive myoclonus epilepsy in children and adolescents.
