Uc Science Today

In what’s being called a genetic ‘Rosetta Stone', researchers at the University of California, San Francisco have discovered molecules that can lead to infantile epilepsy or autism. Specifically, a neuronal protein called NaV1.2 and the gene that produces it, called SCN2A. Both play a crucial role in early brain development, according to the neuroscientist Kevin Bender. “One of the central functions of the brain cell is to fire something that is called an action potential, which is a way of transmitting information from one cell to the next. And SCN2A and NaV1.2 are at the heart of that process.” Genetic defects that increase neuronal activity as they transmit signals lead to epilepsy, and when this process abnormally slows down, it may cause autism. “We now have a roadmap for understanding how different mutations in SCN2A could lead to different diseases and if we understand that, it might uncover new areas for intervention in the future.”