Items related to SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
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.
- PublisherCambridge University Press
- Publication date2025
- ISBN 10 1009530372
- ISBN 13 9781009530378
- BindingPaperback
- LanguageEnglish
- Number of pages96
- EditorGeorge Jr. Alfred L.
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ISCN2AIRELATED DISORDERS
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Scn2a-related Disorders
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SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
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SCN2A-Related Disorders (Paperback)
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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 our UK warehouse or from our Australian or US warehouses, depending on stock availability. Seller Inventory # 9781009530378
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Scn2a-related Disorders
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SCN2A-Related Disorders
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SCN2A-Related Disorders (Elements in Genetics in Epilepsy)
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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
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Taschenbuch. Condition: 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. Seller Inventory # 9781009530378
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