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OverviewSCN2A 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. Full Product DetailsAuthor: Alfred L. George, Jr. (Northwestern University Feinberg School of Medicine) , Megan Abbott (University of Colorado School of Medicine) , Kevin J. Bender (University of California, San Francisco) , Andreas Brunklaus (Royal Hospital for Children and University of Glasgow)Publisher: Cambridge University Press Imprint: Cambridge University Press ISBN: 9781009530330ISBN 10: 100953033 Pages: 75 Publication Date: 31 December 2024 Audience: General/trade , General Format: Hardback Publisher's Status: Forthcoming Availability: Not yet available, will be POD  This item is yet to be released. You can pre-order this item and we will dispatch it to you upon it's release. This is a print on demand item which is still yet to be released. Table of ContentsIntroduction; Patient, Family and Foundation Perspectives; Clinical Spectrum and Genotype-Phenotype Correlations; The Biology of SCN2A; Treatment of SCN2A-Related Disorders; Abbreviations; Appendix; References.ReviewsAuthor InformationTab Content 6Author Website:Countries AvailableAll regions |
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