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Article

Pathomechanism of nocturnal paroxysmal dystonia in autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jun 2020

Fukuyama Kouji, Fukuzawa Masashi, Shiroyama Takashi, Okada Motohiro

Abstract excerpt

To study the pathomechanism and pathophysiology of nocturnal paroxysmal dystonia of autosomal dominant sleep-related hypermotor epilepsy (ADSHE), this study determined functional abnormalities in thalamic hyperdirect pathway from reticular thalamic nucleus (RTN), motor thalamic nuclei (MoTN), subthalamic nucleus (STN) to substantia nigra pars reticulata (SNr) of transgenic rats (S286L-TG) bearing S286 L missense...

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PMID: 32169758
DOI: 10.1016/j.biopha.2020.110070

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