SCN2A-Related Disorders (Paperback)

Lingua: inglese

Editore: Cambridge University Press, Cambridge, 2025

1009530372 / 9781009530378

Da: Grand Eagle Retail, Bensenville, IL, U.S.A.Grand Eagle Retail

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Paperback. 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. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core. This item is printed on demand. Shipping may be from multiple locations in the US or from the UK, depending on stock availability.

Codice articolo 9781009530378

Titolo
SCN2A-Related Disorders (Paperback)
Autore
Alfred L. George, Jr.
Editore
Cambridge University Press, Cambridge
Anno di pubblicazione
2025
Condizione
new
Rilegatura
Paperback
Lingua
inglese
ISBN 10
1009530372
ISBN 13
9781009530378

Grand Eagle Retail

Bensenville, IL, U.S.A.

Venditore con 5 stelle

Venditore AbeBooks dal 12 ottobre 2005

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