Articles with "s284l mutant" as a keyword



Upregulated and Hyperactivated Thalamic Connexin 43 Plays Important Roles in Pathomechanisms of Cognitive Impairment and Seizure of Autosomal Dominant Sleep-Related Hypermotor Epilepsy with S284L-Mutant α4 Subunit of Nicotinic ACh Receptor

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Published in 2020 at "Pharmaceuticals"

DOI: 10.3390/ph13050099

Abstract: To understand the pathomechanism and pathophysiology of autosomal dominant sleep-related hypermotor epilepsy (ADSHE), we studied functional abnormalities of glutamatergic transmission in thalamocortical pathway from reticular thalamic nucleus (RTN), mediodorsal thalamic nucleus (MDTN) to orbitofrontal cortex… read more here.

Keywords: hypermotor epilepsy; s284l mutant; sleep related; related hypermotor ... See more keywords