Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Books From California, Simi Valley, CA, U.S.A.
paperback. Condizione: Very Good. Cover and edges may have some wear.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: California Books, Miami, FL, U.S.A.
EUR 25,27
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Aggiungi al carrelloCondizione: New.
Lingua: Inglese
Editore: Aspen Publishers, New York, NY, 1997
ISBN 10: 0834209535 ISBN 13: 9780834209534
Da: a2zbooks, Burgin, KY, U.S.A.
Softcover. Condizione: Good. Used book, good condition, all pages clean. Quantity Available: 1. ISBN: 0834209535. ISBN/EAN: 9780834209534. Pictures of this item not already displayed here available upon request. Inventory No: ABE332378414.
Lingua: Inglese
Editore: Cambridge University Press, GB, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Rarewaves.com USA, London, LONDO, Regno Unito
EUR 28,38
Quantità: Più di 20 disponibili
Aggiungi al carrelloPaperback. Condizione: New. 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.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Books Puddle, New York, NY, U.S.A.
Condizione: New.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Majestic Books, Hounslow, Regno Unito
EUR 25,45
Quantità: 4 disponibili
Aggiungi al carrelloCondizione: New.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Biblios, Frankfurt am main, HESSE, Germania
EUR 26,70
Quantità: 4 disponibili
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Lingua: Inglese
Editore: Cambridge University Press -, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Chiron Media, Wallingford, Regno Unito
EUR 21,90
Quantità: 3 disponibili
Aggiungi al carrellopaperback. Condizione: New.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Ria Christie Collections, Uxbridge, Regno Unito
EUR 25,15
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Aggiungi al carrelloCondizione: New. In.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Da: Ria Christie Collections, Uxbridge, Regno Unito
EUR 70,72
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Aggiungi al carrelloCondizione: New. In.
Lingua: Inglese
Editore: Cambridge University Press, GB, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Rarewaves.com UK, London, Regno Unito
EUR 25,32
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Aggiungi al carrelloPaperback. Condizione: New. 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.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Revaluation Books, Exeter, Regno Unito
EUR 20,79
Quantità: 1 disponibili
Aggiungi al carrelloPaperback. Condizione: Brand New. 75 pages. 6.00x0.20x9.00 inches. In Stock. This item is printed on demand.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Da: Revaluation Books, Exeter, Regno Unito
EUR 71,28
Quantità: 1 disponibili
Aggiungi al carrelloHardcover. Condizione: Brand New. 75 pages. 6.00x0.25x9.00 inches. In Stock. This item is printed on demand.