SCN2A-Related Disorders
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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:96 Pages
Weight:0.66 lbs.
Dimensions:0.3" x 6.0" x 9.0"
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