SCN2A-Related Disorders
<i>SCN2A</i>-Related Disorders
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
Scott Demarest, University of Colorado School of Medicine
Shawn Egan, FamilieSCN2A Foundation
Isabel Haviland, Boston Children’s Hospital and Harvard Medical School
Jennifer A. Kearney, Northwestern University Feinberg School of Medicine
Leah Schust Myers, FamilieSCN2A Foundation
Heather E. Olson, Boston Children's Hospital and Harvard Medical School
Stephan J. Sanders, University of Oxford
Christina SanInocencio, FamilieSCN2A Foundation
Joseph Symonds, Royal Hospital for Children and University of Glasgow
Christopher H. Thompson, Northwestern University Feinberg School of Medicine
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.
Product details
December 2024Adobe eBook Reader
9781009530347
0 pages
This ISBN is for an eBook version which is distributed on our behalf by a third party.
Table of Contents
- Introduction
- Patient, Family and Foundation Perspectives
- Clinical Spectrum and Genotype-Phenotype Correlations
- The Biology of SCN2A
- Treatment of SCN2A-Related Disorders
- Abbreviations
- Appendix
- References.
