Verwandte Artikel zu SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
Inhaltsangabe
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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- VerlagCambridge University Press
- Erscheinungsdatum2025
- ISBN 10 100953033X
- ISBN 13 9781009530330
- EinbandTapa dura
- SpracheEnglisch
- Anzahl der Seiten96
- HerausgeberGeorge Jr. Alfred L.
- Kontakt zum HerstellerNicht verfügbar
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SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
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SCN2A-Related Disorders
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SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
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Buch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - 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 Verkäufers 9781009530330
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SCN2A-Related Disorders (Hardcover)
Verlag:
Cambridge University Press, Cambridge, 2025
ISBN 10: 100953033X
ISBN 13: 9781009530330
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Hardcover. Zustand: new. Hardcover. 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 our UK warehouse or from our Australian or US warehouses, depending on stock availability. Bestandsnummer des Verkäufers 9781009530330
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SCN2A-Related Disorders (Hardcover)
Verlag:
Cambridge University Press, Cambridge, 2025
ISBN 10: 100953033X
ISBN 13: 9781009530330
Neu
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Anbieter: AussieBookSeller, Truganina, VIC, Australien
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Hardcover. Zustand: new. Hardcover. 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 our Sydney, NSW warehouse or from our UK or US warehouse, depending on stock availability. Bestandsnummer des Verkäufers 9781009530330
Anzahl: 1 verfügbar
Beispielbild für diese ISBN
SCN2A-Related Disorders (Hardcover)
Verlag:
Cambridge University Press, Cambridge, 2025
ISBN 10: 100953033X
ISBN 13: 9781009530330
Neu
Hardcover
Anbieter: Grand Eagle Retail, Fairfield, OH, USA
Verkäuferbewertung 5 von 5 Sternen
Hardcover. Zustand: new. Hardcover. 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. Bestandsnummer des Verkäufers 9781009530330
Anzahl: 1 verfügbar