Scn2a-Related Disorders

by Megan Abbott, Kevin J. Bender, Alfred L. George Jr.

SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy...

• Format: Hardcover
• Language: English
• ISBN: 100953033X
• ISBN13: 9781009530330
• Release Date: December 2024
• Publisher: Cambridge University Press
• Length: 75 Pages