Cantitate/Preț
Produs

KCNQ2- and KCNQ3-Associated Epilepsy: Elements in Genetics in Epilepsy

Editat de Sarah Weckhuysen, Alfred L. George, Jr
en Limba Engleză Paperback – 30 noi 2022
KCNQ2 and KCNQ3 encode subunits (KV7.2, KV7.3) that combine to form a voltage-gated 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. This title is also available as Open Access on Cambridge Core.
Citește tot Restrânge

Din seria Elements in Genetics in Epilepsy

Preț: 13469 lei

Preț vechi: 14178 lei
-5% Nou

Puncte Express: 202

Preț estimativ în valută:
2577 2722$ 2145£

Carte tipărită la comandă

Livrare economică 13-27 ianuarie 25

Preluare comenzi: 021 569.72.76

Specificații

ISBN-13: 9781009278263
ISBN-10: 1009278266
Pagini: 75
Dimensiuni: 152 x 229 x 6 mm
Greutate: 0.16 kg
Editura: Cambridge University Press
Colecția Cambridge University Press
Seria Elements in Genetics in Epilepsy

Locul publicării:Cambridge, United Kingdom

Cuprins

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.

Descriere

A review of the clinical, genetic and pathophysiological features and treatment of neurological disorders caused by variants in two brain potassium channel genes (KCNQ2, KCNQ3).