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, GB, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Rarewaves.com USA, London, LONDO, Regno Unito
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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: Majestic Books, Hounslow, Regno Unito
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Lingua: Inglese
Editore: Cambridge University Press CUP, 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: Biblios, Frankfurt am main, HESSE, Germania
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Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Ria Christie Collections, Uxbridge, Regno Unito
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Lingua: Inglese
Editore: Cambridge University Press -, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Aggiungi al carrellopaperback. Condizione: New.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: UK BOOKS STORE, London, LONDO, Regno Unito
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Aggiungi al carrelloPaperback. Condizione: New. Brand New! Fast Delivery This is an International Edition and ship within 24-48 hours. Deliver by FedEx and Dhl, & Aramex, UPS, & USPS and we do accept APO and PO BOX Addresses. Order can be delivered worldwide within 7-12 days and we do have flat rate for up to 2LB. Extra shipping charges will be requested if the Book weight is more than 5 LB. This Item May be shipped from India, United states & United Kingdom. Depending on your location and availability.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Da: Ria Christie Collections, Uxbridge, Regno Unito
EUR 71,69
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Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Da: Kennys Bookshop and Art Galleries Ltd., Galway, GY, Irlanda
EUR 81,45
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Aggiungi al carrelloCondizione: New.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Da: Books Puddle, New York, NY, U.S.A.
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Lingua: Inglese
Editore: Cambridge University Press, GB, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Rarewaves.com UK, London, Regno Unito
EUR 25,26
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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: 100953033X ISBN 13: 9781009530330
Da: Kennys Bookstore, Olney, MD, U.S.A.
EUR 100,37
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Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Da: Revaluation Books, Exeter, Regno Unito
EUR 20,74
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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 71,10
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Aggiungi al carrelloHardcover. Condizione: Brand New. 75 pages. 6.00x0.25x9.00 inches. In Stock. This item is printed on demand.
Lingua: Inglese
Editore: Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Da: Biblios, Frankfurt am main, HESSE, Germania
EUR 98,57
Quantità: 4 disponibili
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