SCN2A-Related Disorders (Elements in Genetics in Epilepsy) - Softcover

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

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ISBN 10: 1009530372 ISBN 13: 9781009530378

Verlag: Cambridge University Press, 2025

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Reviews clinical, genetic and pathophysiological features and treatment of neurodevelopmental disorders caused by variants in the voltage-gated sodium channel gene, SCN2A.

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Verlag: Cambridge University Press
Erscheinungsdatum: 2025
Sprache: Englisch
ISBN 10: 1009530372
ISBN 13: 9781009530378
Einband: Taschenbuch
Anzahl der Seiten: 96
Herausgeber: George Jr. Alfred L.
Kontakt zum Hersteller: Cambridge University Press
https://www.cambridge.org/

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

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ISBN 10: 100953033X ISBN 13: 9781009530330
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SCN2A-Related Disorders (Elements in Genetics in Epilepsy)

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.

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Scn2a-related Disorders

George, Alfred L., Jr. (EDT); Olson, Heather E.; Sanders, Stephan J.; Saninocencio, Christina; Symonds, Joseph

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George, Alfred L., Jr.

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Scn2a-related Disorders

George, Alfred L., Jr. (EDT); Olson, Heather E.; Sanders, Stephan J.; Saninocencio, Christina; Symonds, Joseph

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ISBN 10: 1009530372 ISBN 13: 9781009530378

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SCN2A-Related Disorders

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

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Paperback. Zustand: 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. Bestandsnummer des Verk�ufers LU-9781009530378

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SCN2A-Related Disorders (Paperback)

Alfred L. George, Jr.

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Paperback. Zustand: 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. Bestandsnummer des Verk�ufers 9781009530378

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SCN2A-Related Disorders

Edited by Alfred L. George, Jr. , 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 Symond

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Paperback. Zustand: Brand New. 75 pages. 6.00x0.20x9.00 inches. In Stock. This item is printed on demand. Bestandsnummer des Verk�ufers __1009530372

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SCN2A-Related Disorders (Elements in Genetics in Epilepsy)

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.

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