Shekhar Singh: Understanding EPM1 and CSTB: Unraveling the Mysteries of a Rare Disorder
Our research delves into EPM1, also known as Unverricht–Lundborg disease, which is a rare form of epilepsy characterized by seizures, progressive myoclonus, and neurological deterioration. It is caused due to the mutation in CSTB, the cystatin B gene. CSTB encodes cystatin B, a protein involved in regulating protease activity within cells. Mutations in CSTB lead […]