Synopsis
Reviews clinical, genetic and pathophysiological features and treatment of neurodevelopmental disorders caused by variants in the voltage-gated sodium channel gene, SCN2A.
"synopsis" may belong to another edition of this title.
Other Popular Editions of the Same Title
Search results for SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
Stock Image
SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
Published by
Cambridge University Press, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
Used
paperback
Seller: Books From California, Simi Valley, CA, U.S.A.
Seller rating 4 out of 5 stars
paperback. Condition: Very Good. Cover and edges may have some wear. Seller Inventory # mon0003872340
Seller Image
Scn2a-related Disorders
Published by
Cambridge University Press, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
New
Softcover
Seller: GreatBookPrices, Columbia, MD, U.S.A.
Seller rating 5 out of 5 stars
Condition: New. Seller Inventory # 47818358-n
Seller Image
SCN2A-Related Disorders (Paperback or Softback)
Published by
Cambridge University Press 1/2/2025, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
New
Paperback or Softback
Seller: BargainBookStores, Grand Rapids, MI, U.S.A.
Seller rating 5 out of 5 stars
Paperback or Softback. Condition: New. SCN2A-Related Disorders. Book. Seller Inventory # BBS-9781009530378
Seller Image
Scn2a-related Disorders
Published by
Cambridge University Press, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
Used
Softcover
Seller: GreatBookPrices, Columbia, MD, U.S.A.
Seller rating 5 out of 5 stars
Condition: As New. Unread book in perfect condition. Seller Inventory # 47818358
Stock Image
SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
Published by
Cambridge University Press, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
New
Softcover
Seller: California Books, Miami, FL, U.S.A.
Seller rating 4 out of 5 stars
Condition: New. Seller Inventory # I-9781009530378
Seller Image
SCN2A-Related Disorders
Published by
Cambridge University Press, GB, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
New
Paperback
Seller: Rarewaves.com USA, London, LONDO, United Kingdom
Seller rating 5 out of 5 stars
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 Inventory # LU-9781009530378
Buy New
£ 24.28
Free Shipping
Ships from United Kingdom to U.S.A.
Ships from United Kingdom to U.S.A.
Quantity: Over 20 available
Stock Image
SCN2A-Related Disorders (Paperback)
Published by
Cambridge University Press, Cambridge, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
New
Paperback
Seller: Grand Eagle Retail, Bensenville, IL, U.S.A.
Seller rating 5 out of 5 stars
Paperback. Condition: new. 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. Seller Inventory # 9781009530378
Stock Image
SCN2A-Related Disorders
Published by
Cambridge University Press, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
New
Paperback
Seller: Revaluation Books, Exeter, United Kingdom
Seller rating 5 out of 5 stars
Paperback. Condition: Brand New. 75 pages. 6.00x0.20x9.00 inches. In Stock. This item is printed on demand. Seller Inventory # __1009530372
Buy New
£ 17.53
£ 10 shipping
Ships from United Kingdom to U.S.A.
Ships from United Kingdom to U.S.A.
Quantity: 1 available
Stock Image
SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
Published by
Cambridge University Press, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
New
Softcover
Seller: Majestic Books, Hounslow, United Kingdom
Seller rating 4 out of 5 stars
Condition: New. Seller Inventory # 394660749
Buy New
£ 24.49
£ 6.50 shipping
Ships from United Kingdom to U.S.A.
Ships from United Kingdom to U.S.A.
Quantity: 4 available
Stock Image
SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
Published by
Cambridge University Press CUP, 2025
ISBN 10: 1009530372
ISBN 13: 9781009530378
New
Softcover
Seller: Books Puddle, New York, NY, U.S.A.
Seller rating 4 out of 5 stars
Condition: New. Seller Inventory # 26401716306