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KCNQ2- and KCNQ3-associated epilepsy / edited by Sarah Weckhuysen, Alfred L. George

Contributor(s): Resource type: Ressourcentyp: Buch (Online)Book (Online)Language: English Series: Cambridge elements. Elements in genetics in epilepsyPublisher: Cambridge, United Kingdom ; New York, NY : Cambridge University Press, 2022Copyright date: ©2022Description: 1 Online-Ressource (99 pages) : color illustrationsISBN:
  • 9781009278270
Subject(s): Additional physical formats: 9781009278263. | Erscheint auch als: KCNQ2- and KCNQ3-associated epilepsy. Druck-Ausgabe. Cambridge, United Kingdom : Cambridge University Press, 2022DDC classification:
  • 616.85/3 23/eng/20220914
LOC classification:
  • RC373
NLM classification:
  • WL 385
Online resources:
Contents:
Patient, family and foundation perspectives -- Basic science of KCNQ2 and KCNQ3 -- Genotype-phenotype correlations -- Treatment of KCNQ2-associated epilepsies.
Summary: "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"--PPN: PPN: 1916240623Package identifier: Produktsigel: ZDB-94-OAB
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