Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening

Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening

We describe genetic and molecular-level functional alterations in the α4β2 neuronal nicotinic acetylcholine receptor (nAChR) from a patient with sleep-related hyperkinetic epilepsy and a family history of epilepsy. Genetic sequencing revealed a heterozygous variant c.851C>G in the <i>CHRNA4...

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Bibliographic Details
Main Authors: Simone Mazzaferro, Deborah J. Msekela, Edward C. Cooper, Atul Maheshwari, Steven M. Sine
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:International Journal of Molecular Sciences
Subjects:
sleep-related hyperkinetic epilepsy
neuronal nicotinic acetylcholine receptor
gain-of-function variant
patch-clamp
single ion-channel
ion-channel gating
Online Access:https://www.mdpi.com/1422-0067/23/20/12124

Internet

https://www.mdpi.com/1422-0067/23/20/12124

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