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.

List 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.

Product details

• Authors: Megan Abbott, Megan (University of Colorado School of Me Abbott, Megan (University of Colorado School of Medicine) Abbott, Abbott Megan, Kevin J. Bender, Kevin J. (University of California Bender, Andreas Brunklaus, Andreas (Royal Hospital for Children and University of Glasgow) Brunklaus, Scott Demarest, Scott (University of Colorado School of Medicine) Demarest, Shawn Egan, Shawn (FamilieSCN2A Foundation) Egan, Isabel Haviland, Isabel (Boston Children’s Hospital and Harvard Medical School) Haviland, Jennifer A. Kearney, Jennifer A. (Northwestern University Feinberg School of Medicine) Kearney, Heather E. Olson, Heather E. (Boston Children's Hospital and Harvard Medical School) Olson, Stephan J. Sanders, Christina SanInocencio, Leah Schust Myers, Leah (FamilieSCN2A Foundation) Schust Myers, Symonds Joseph, Christopher H. Thompson
• Assisted by: Jr. George (Editor)
• Publisher: Cambridge University Press ELT
• Languages: English
• Product format: Paperback / Softback
• Released: 01.11.2024
• EAN: 9781009530378
• ISBN: 978-1-0-0953037-8
• No. of pages: 96
• Series: Elements in Genetics in Epilepsy
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Non-clinical medicine; MEDICAL / Neurology, Neurology & clinical neurophysiology, Neurosciences, Neurology and clinical neurophysiology, Medical Genetics, Developmental biology