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Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Books From California, Simi Valley, CA, U.S.A.
paperback. Condition: Very Good. Cover and edges may have some wear.
Seller: GreatBookPrices, Columbia, MD, U.S.A.
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Condition: As New. Brake, Madison (illustrator). Unread book in perfect condition.
Condition: New. Brake, Madison (illustrator).
Published by Cambridge University Press, GB, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Rarewaves.com USA, London, LONDO, United Kingdom
Paperback. 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.
Seller: GreatBookPricesUK, Woodford Green, United Kingdom
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Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Majestic Books, Hounslow, United Kingdom
Condition: New.
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Ria Christie Collections, Uxbridge, United Kingdom
Condition: New. In.
Published by Cambridge University Press -, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Chiron Media, Wallingford, United Kingdom
paperback. Condition: New.
Condition: New. Brake, Madison (illustrator).
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Books Puddle, New York, NY, U.S.A.
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Condition: As New. Brake, Madison (illustrator). Unread book in perfect condition.
Published by University of Georgia Press, 2010
ISBN 10: 0820328936 ISBN 13: 9780820328935
Language: English
Seller: Greenway, Chattanooga, TN, U.S.A.
hardcover. Condition: Very good condition. very clean,fast ship.
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Biblios, Frankfurt am main, HESSE, Germany
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Published by Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Language: English
Seller: Ria Christie Collections, Uxbridge, United Kingdom
Condition: New. In.
Published by Cambridge University Press, GB, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Rarewaves.com UK, London, United Kingdom
Paperback. 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.
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
Language: English
Seller: Revaluation Books, Exeter, United Kingdom
Paperback. Condition: Brand New. 75 pages. 6.00x0.20x9.00 inches. In Stock. This item is printed on demand.
Publication Date: 2024
Seller: Gyan Books Pvt. Ltd., Delhi, India
Leather Bound. Condition: New. Language: English. Presenting an Exquisite Leather-Bound Edition, expertly crafted with Original Natural Leather that gracefully adorns the spine and corners. The allure continues with Golden Leaf Printing that adds a touch of elegance, while Hand Embossing on the rounded spine lends an artistic flair. This masterpiece has been meticulously reprinted in 2024, utilizing the invaluable guidance of the original edition published many years ago in 1915. The contents of this book are presented in classic black and white. Its durability is ensured through a meticulous sewing binding technique, enhancing its longevity. Imprinted on top-tier quality paper. A team of professionals has expertly processed each page, delicately preserving its content without alteration. Due to the vintage nature of these books, every page has been manually restored for legibility. However, in certain instances, occasional blurriness, missing segments, or faint black spots might persist. We sincerely hope for your understanding of the challenges we faced with these books. Recognizing their significance for readers seeking insight into our historical treasure, we've diligently restored and reissued them. Our intention is to offer this valuable resource once again. We eagerly await your feedback, hoping that you'll find it appealing and will generously share your thoughts and recommendations. Lang: - English, Pages: : - 264, Print on Demand. If it is a multi-volume set, then it is only a single volume. We are specialised in Customisation of books, if you wish to opt different color leather binding, you may contact us. This service is chargeable. Product Disclaimer: Kindly be informed that, owing to the inherent nature of leather as a natural material, minor discolorations or textural variations may be perceptible. Explore the FOLIO EDITION (12x19 Inches): Available Upon Request. 264.
Published by Cambridge University Press, 2025
ISBN 10: 100953033X ISBN 13: 9781009530330
Language: English
Seller: Revaluation Books, Exeter, United Kingdom
Hardcover. Condition: Brand New. 75 pages. 6.00x0.25x9.00 inches. In Stock. This item is printed on demand.