Age-Dependent and Sleep/Seizure-Induced Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Age-Dependent and Sleep/Seizure-Induced Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy

The loss-of-function S284L-mutant α4 subunit of the nicotinic acetylcholine receptor (nAChR) is considered to contribute to the pathomechanism of autosomal dominant sleep-related hypermotor epilepsy (ADSHE); however, the age-dependent and sleep-related pathomechanisms of ADSHE remain to be clarified...

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Bibliographic Details
Main Authors: Kouji Fukuyama, Motohiro Okada
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:International Journal of Molecular Sciences
Subjects:
autosomal dominant sleep-related hypermotor epilepsy
L-glutamate
hemichannel
basal ganglia
extracellular signal-regulated kinase
protein kinase B
Online Access:https://www.mdpi.com/1422-0067/21/21/8142

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https://www.mdpi.com/1422-0067/21/21/8142

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