SCN1A
SCN1A is a gene that provides instructions for making a protein called sodium channel protein type 1 subunit alpha. This protein is essential for the proper functioning of neurons, as it helps regulate the flow of sodium ions in and out of cells. Sodium channels play a crucial role in generating and transmitting electrical signals in the brain.
Mutations in the SCN1A gene are linked to various neurological disorders, most notably Dravet syndrome, a severe form of epilepsy that begins in infancy. These mutations can disrupt normal brain activity, leading to seizures and other neurological symptoms. Understanding SCN1A is important for developing targeted treatments for related conditions.