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Hardcover Scn2a-Related Disorders Book
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ISBN: 100953033X

ISBN13: 9781009530330

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...

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Format: Hardcover

Release Date: 11/30/2024

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