Language: English
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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paperback. Condition: Very Good. Cover and edges may have some wear.
Language: English
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Language: English
Published by Cambridge University Press, GB, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Add to basketPaperback. Condition: 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.
Language: English
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Language: English
Published by Cambridge University Press CUP, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Language: English
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Published by Cambridge University Press -, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Language: English
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Paperback. Condition: New. Brand New! Fast Delivery "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 4-6 Working days .and we do have flat rate for up to 2LB. Extra shipping charges will be requested This Item May be shipped from India, United states & United Kingdom. Depending on your location and availability.
Language: English
Published by Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
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Language: English
Published by Cambridge University Press, GB, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Add to basketPaperback. Condition: 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.
Language: English
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
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Add to basketPaperback. Condition: Brand New. 75 pages. 6.00x0.20x9.00 inches. In Stock. This item is printed on demand.
Language: English
Published by Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Seller: Revaluation Books, Exeter, United Kingdom
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Add to basketHardcover. Condition: Brand New. 75 pages. 6.00x0.25x9.00 inches. In Stock. This item is printed on demand.