{"product_id":"scn2a-related-disorders-hardback-9781009530330","title":"SCN2A-Related Disorders (Hardback) 9781009530330","description":"\u003cfont face=\"Georgia\"\u003e\r\n\u003cp\u003e\u003cfont size=\"6\"\u003eSCN2A-Related Disorders\u003c\/font\u003e\u003cbr\u003e\r\n\r\n\r\n\u003c\/p\u003e\n\u003cp\u003e\u003cem\u003eReviews clinical, genetic and pathophysiological features and treatment of neurodevelopmental disorders caused by variants in the voltage-gated sodium channel gene, SCN2A.\u003c\/em\u003e\u003c\/p\u003e\r\n\r\n\r\n\u003cp\u003e\u003cfont size=\"4\"\u003eAlfred L. George, Jr. (Edited by), Megan Abbott (Author), Kevin J. Bender (Author), Andreas Brunklaus (Author), Scott Demarest (Author), Shawn Egan (Author), Isabel Haviland (Author), Jennifer A. Kearney (Author), Leah Schust Myers (Author), Heather E. Olson (Author), Stephan J. Sanders (Author), Christina SanInocencio (Author), Joseph Symonds (Author), Christopher H. Thompson (Author)\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e9781009530330, Cambridge University Press\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eHardback, published 2 January 2025\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e96 pages\u003cbr\u003e22.9 x 15.2 x 0.6 cm, 0.277 kg\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\r\n\r\n\r\n\u003cp align=\"justify\"\u003e\u003cstrong\u003e\u003cfont size=\"3\"\u003eSCN2A 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.\u003c\/font\u003e\u003c\/strong\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eIntroduction\u003cbr\u003e Patient, Family and Foundation Perspectives\u003cbr\u003e Clinical Spectrum and Genotype-Phenotype Correlations\u003cbr\u003e The Biology of SCN2A\u003cbr\u003e Treatment of SCN2A-Related Disorders\u003cbr\u003e Abbreviations\u003cbr\u003e Appendix\u003cbr\u003e References.\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eSubject Areas: Neurology \u0026amp; clinical neurophysiology [\u003ca title=\"See our other books on Neurology \u0026amp; clinical neurophysiology\" href=\"https:\/\/freshlyprintedbooks.co.uk\/search?q=%22Neurology%20\u0026amp;%20clinical%20neurophysiology%20%5BMJN%5D%22\"\u003eMJN\u003c\/a\u003e]\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\u003c\/font\u003e","brand":"Cambridge University Press","offers":[{"title":"Brand New","offer_id":52415634538776,"sku":"9781009530330","price":48.48,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0730\/2037\/5320\/files\/9781009530330i.jpg?v=1784419957","url":"https:\/\/freshlyprintedbooks.co.uk\/products\/scn2a-related-disorders-hardback-9781009530330","provider":"Freshly Printed Books","version":"1.0","type":"link"}