Kcnq2- And Kcnq3-Associated Epilepsy

"KCNQ2 and KCNQ3 encode subunits (KV7.2, KV7.3) that combine to form a voltagegated potassium ion (K ) channel responsible for generating an ionic current (M-current) important for controlling activity in the nervous system. Pathogenic variants in both genes are associated with a spectrum of genetic neurological disorders that feature epilepsy of variable severity and can be accompanied by debilitating impaired neurodevelopment. These two genes were among the first discovered causes of monogenic epilepsy, and are frequently identified in persons with early-life epilepsy. This Element provides a comprehensive review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these prototypical neurological disorders accompanied by perspectives shared by affected families and scientists who have made seminal contributions to the field"--

List of contents

Contributors; Introduction; Patient, Family and Foundation Perspectives; Basic Science of KCNQ2 and KCNQ3; Genotype-Phenotype Correlations; Treatment of KCNQ2-Associated Epilepsies; Abbreviations; Appendix: Video Transcripts; References.

Summary

A comprehensive review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these prototypical neurological disorders accompanied by perspectives shared by affected families and scientists who have made seminal contributions to the field. This title is also available as Open Access on Cambridge Core.

Product details

• Authors: Sarah George Weckhuysen
• Assisted by: Alfred L George (Editor), Alfred L. George (Editor), Jr George (Editor), Alfred L George Jr (Editor), Alfred L. George Jr (Editor), Sarah Weckhuysen (Editor)
• Publisher: Cambridge University Press ELT
• Languages: English
• Product format: Paperback / Softback
• Released: 01.12.2022
• EAN: 9781009278263
• ISBN: 978-1-0-0927826-3
• No. of pages: 75
• Series: Elements in Genetics in Epilepsy; Elements in Genetics in Epilep
• Subjects: Natural sciences, medicine, IT, technology > Biology > General, dictionaries; MEDICAL / Neurology, Neurology & clinical neurophysiology, Neurology and clinical neurophysiology