SCN1A

Description

The SCN1A gene provides instructions for making a protein called Nav1.1, a type of sodium channel that plays a crucial role in transmitting signals between nerve cells. These channels are responsible for the rapid influx of sodium ions into nerve cells, generating electrical impulses that enable communication within the nervous system. Mutations in the SCN1A gene can disrupt the function of Nav1.1, leading to a range of neurological disorders.

Associated Diseases

• Dravet syndrome
• Generalized epilepsy with febrile seizures plus (GEFS+)
• Childhood absence epilepsy
• Lennox-Gastaut syndrome
• Infantile spasms
• Other epilepsy syndromes

Did you know?

Mutations in the SCN1A gene are responsible for approximately 10% of all cases of Dravet syndrome, a severe form of epilepsy.