KCNQ2- and KCNQ3-Associated Epilepsy

KCNQ2 and KCNQ3 genes encode voltage-gated potassium ion (K+) channels, which are associated with genetic neurological disorders that feature epilepsy and impaired neurodevelopment. This title provides a comprehensive review of the clinical features, genetic basis, pathophysiology, pharmacology, and treatment of these disorders.

Format: Paperback / softback
Length: 75 pages
Publication date: 01 December 2022
Publisher: Cambridge University Press

KCNQ2 and KCNQ3 are two genes that encode subunits (KV7.2 and KV7.3) that combine to form a voltage-gated potassium ion (K+) channel responsible for generating an ionic current (M-current) that is essential for controlling activity in the nervous system. Pathogenic variants in both genes are associated with a wide range of genetic neurological disorders that feature epilepsy of varying 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 individuals 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.

The voltage-gated potassium ion (K+) channel, which is formed by the KCNQ2 and KCNQ3 subunits (KV7.2 and KV7.3), is in charge of producing an ionic current (M-current) that is crucial for regulating activity in the nervous system. Pathogenic variants in both genes are linked to a variety of genetic neurological conditions that exhibit epilepsy of different severity and may be accompanied by disabling impaired neurodevelopment. These two genes were among the first to be identified as the causes of monogenic epilepsy, and they are frequently found in individuals with early-life epilepsy.

This Element offers a thorough examination of the clinical characteristics, genetic underpinnings, pathophysiology, pharmacology, and treatment of these prototypical neurological disorders, along with insights shared by affected families and scientists who have made significant contributions to the field. This title is also available as Open Access on Cambridge Core.

Weight: 160g
ISBN-13: 9781009278263