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KCNQ2- and KCNQ3-Associated Epilepsy / edited by Sarah Weckhuysen, Alfred L. George, Jr.

Additional Titles
<i>KCNQ2</i>- & <i>KCNQ3</i>-Associated Epilepsy
Published
Cambridge : Cambridge University Press, 2022.
Physical Description
1 online resource : digital, PDF file(s).
Additional Creators
Weckhuysen, Sarah and George, Jr, Alfred L.
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Restrictions on Access
Open Access Unrestricted online access
Summary
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.
ISBN
9781009278270 (ebook)
9781009278263 (paperback)
Note
Title from publisher's bibliographic system (viewed on 16 Nov 2022).
View MARC record | catkey: 39329274