Items related to SCN2A-Related Disorders (Elements in Genetics in Epilepsy)

9781009530378: SCN2A-Related Disorders (Elements in Genetics in Epilepsy)

Synopsis

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.

"synopsis" may belong to another edition of this title.

Buy Used

Condition: As New
Unread book in perfect condition...
View this item

US$ 2.64 shipping within U.S.A.

Destination, rates & speeds

Other Popular Editions of the Same Title

9781009530330: SCN2A-Related Disorders (Elements in Genetics in Epilepsy)

Featured Edition

ISBN 10:  100953033X ISBN 13:  9781009530330
Publisher: Cambridge University Press, 2025
Hardcover

Search results for SCN2A-Related Disorders (Elements in Genetics in Epilepsy)

Seller Image

George, Alfred L., Jr. (EDT); Olson, Heather E.; Sanders, Stephan J.; Saninocencio, Christina; Symonds, Joseph
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 5-star rating, Learn more about seller ratings

Condition: New. Seller Inventory # 47818358-n

Contact seller

Buy New

US$ 26.35
Convert currency
Shipping: US$ 2.64
Within U.S.A.
Destination, rates & speeds

Quantity: Over 20 available

Add to basket

Stock Image

Abbott, Megan; Bender, Kevin J.; Brunklaus, Andreas; Demarest, Scott; Egan, Shawn; Haviland, Isabel; Kearney, Jennifer A.; Schust Myers, Leah; Olson, Heather E.; Sanders, Stephan J.; SanInocencio, Christina; Symonds, Joseph; Thompson, Christopher H.
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
New Softcover

Seller: California Books, Miami, FL, U.S.A.

Seller rating 5 out of 5 stars 5-star rating, Learn more about seller ratings

Condition: New. Seller Inventory # I-9781009530378

Contact seller

Buy New

US$ 29.00
Convert currency
Shipping: FREE
Within U.S.A.
Destination, rates & speeds

Quantity: Over 20 available

Add to basket

Stock Image

Abbott, Megan; Bender, Kevin J.; Brunklaus, Andreas; Demarest, Scott; Egan, Shawn; Haviland, Isabel; Kearney, Jennifer A.; Schust Myers, Leah; Olson, Heather E.; Sanders, Stephan J.; SanInocencio, Christina; Symonds, Joseph; Thompson, Christopher H.
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
New Softcover

Seller: Best Price, Torrance, CA, U.S.A.

Seller rating 5 out of 5 stars 5-star rating, Learn more about seller ratings

Condition: New. SUPER FAST SHIPPING. Seller Inventory # 9781009530378

Contact seller

Buy New

US$ 21.52
Convert currency
Shipping: US$ 7.98
Within U.S.A.
Destination, rates & speeds

Quantity: 2 available

Add to basket

Seller Image

George, Alfred L., Jr. (EDT); Olson, Heather E.; Sanders, Stephan J.; Saninocencio, Christina; Symonds, Joseph
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 5-star rating, Learn more about seller ratings

Condition: As New. Unread book in perfect condition. Seller Inventory # 47818358

Contact seller

Buy Used

US$ 29.54
Convert currency
Shipping: US$ 2.64
Within U.S.A.
Destination, rates & speeds

Quantity: Over 20 available

Add to basket

Stock Image

Alfred L. George, Jr.
ISBN 10: 1009530372 ISBN 13: 9781009530378
New Paperback

Seller: Grand Eagle Retail, Mason, OH, U.S.A.

Seller rating 5 out of 5 stars 5-star rating, Learn more about seller ratings

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. Shipping may be from multiple locations in the US or from the UK, depending on stock availability. Seller Inventory # 9781009530378

Contact seller

Buy New

US$ 32.25
Convert currency
Shipping: FREE
Within U.S.A.
Destination, rates & speeds

Quantity: 1 available

Add to basket

Seller Image

Christina SanInocencio, Megan Abbott, Shawn Egan, Isabel Haviland, Andreas Brunklaus, Christopher H. Thompson, Joseph Symonds, Stephan J. Sanders, Jennifer A. Kearney, Kevin J. Bender, Scott Demarest, Heather E. Olson, Leah Schust Myers
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 5-star rating, Learn more about seller ratings

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

Contact seller

Buy New

US$ 36.10
Convert currency
Shipping: FREE
From United Kingdom to U.S.A.
Destination, rates & speeds

Quantity: Over 20 available

Add to basket

Stock Image

Abbott, Megan; Bender, Kevin J.; Brunklaus, Andreas; Demarest, Scott; Egan, Shawn; Haviland, Isabel; Kearney, Jennifer A.; Schust Myers, Leah; Olson, Heather E.; Sanders, Stephan J.; SanInocencio, Christina; Symonds, Joseph; Thompson, Christopher H.
Published by Cambridge University Press, 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 4-star rating, Learn more about seller ratings

Condition: New. Seller Inventory # 26401716306

Contact seller

Buy New

US$ 39.49
Convert currency
Shipping: US$ 3.99
Within U.S.A.
Destination, rates & speeds

Quantity: 4 available

Add to basket

Stock Image

Abbott, Megan; Bender, Kevin J.; Brunklaus, Andreas; Demarest, Scott; Egan, Shawn; Haviland, Isabel; Kearney, Jennifer A.; Schust Myers, Leah; Olson, Heather E.; Sanders, Stephan J.; SanInocencio, Christina; Symonds, Joseph; Thompson, Christopher H.
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
New Softcover

Seller: Ria Christie Collections, Uxbridge, United Kingdom

Seller rating 5 out of 5 stars 5-star rating, Learn more about seller ratings

Condition: New. In. Seller Inventory # ria9781009530378_new

Contact seller

Buy New

US$ 29.05
Convert currency
Shipping: US$ 16.18
From United Kingdom to U.S.A.
Destination, rates & speeds

Quantity: Over 20 available

Add to basket

Stock Image

Abbott, Megan Megan Abbott, Kevin J. Bender, Andreas Brunklaus, Scott Demarest, Shawn Egan, Isabel Haviland, Jennifer A. Kearney, Leah Schust Myers, Heather E. Olson, Stephan J. Sanders, Christina SanInocencio, Joseph Symonds, Christopher H. Thompson,
Published by Cambridge University Press -, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
New paperback

Seller: Chiron Media, Wallingford, United Kingdom

Seller rating 4 out of 5 stars 4-star rating, Learn more about seller ratings

paperback. Condition: New. Seller Inventory # 6666-GRD-9781009530378

Contact seller

Buy New

US$ 25.68
Convert currency
Shipping: US$ 20.92
From United Kingdom to U.S.A.
Destination, rates & speeds

Quantity: 3 available

Add to basket

Stock Image

Abbott, Megan; Bender, Kevin J.; Brunklaus, Andreas; Demarest, Scott; Egan, Shawn; Haviland, Isabel; Kearney, Jennifer A.; Schust Myers, Leah; Olson, Heather E.; Sanders, Stephan J.; SanInocencio, Christina; Symonds, Joseph; Thompson, Christopher H.
Published by Cambridge University Press, 2025
ISBN 10: 1009530372 ISBN 13: 9781009530378
New Softcover
Print on Demand

Seller: Majestic Books, Hounslow, United Kingdom

Seller rating 5 out of 5 stars 5-star rating, Learn more about seller ratings

Condition: New. Print on Demand. Seller Inventory # 394660749

Contact seller

Buy New

US$ 38.19
Convert currency
Shipping: US$ 8.78
From United Kingdom to U.S.A.
Destination, rates & speeds

Quantity: 4 available

Add to basket

There are 9 more copies of this book

View all search results for this book