The TRPM3gene encodes an ion channel—a tiny “gate” in cells that controls the flow of charged particles like calcium or sodium. In this disorder, changes (mutations) in the TRPM3gene alter how this channel works, making the channel overactive. Instead of opening and closing normally, it lets too many ions flow into the cell. This disrupts the balance of signals in nerve cells, making them function in an abnormal fashion and more prone to seizures.
Because the channel is overactive, drugs that reduce TRPM3 activity—like primidone—may help calm this excessive activity. However, different mutations may respond differently to treatment, so testing each mutation in the lab is important to guide therapy.
TRPM3