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

Format:

Book

Contributor:

Weckhuysen, Sarah, editor.

George, Alfred L., editor.

Series:

Elements in genetics in epilepsy, 2633-2086.

Cambridge elements. Elements in genetics in epilepsy, 2633-2086

Language:

English

Subjects (All):

Epilepsy--Diagnosis.

Epilepsy.

Physical Description:

1 online resource (99 pages) : digital, PDF file(s).

Edition:

First edition.

Place of Publication:

Cambridge : Cambridge University Press, 2022.

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.

Contents:

Patient, family and foundation perspectives

Basic science of KCNQ2 and KCNQ3

Genotype-phenotype correlations

Treatment of KCNQ2-associated epilepsies.

Notes:

Title from publisher's bibliographic system (viewed on 10 Nov 2022).

Includes bibliographical references.

ISBN:

9781009278256

1009278258

9781009278287

1009278282

9781009278270

1009278274

OCLC:

1492991688

Access Restriction:

Open Access. Unrestricted online access