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Pathogenesis and pathophysiology of autosomal dominant sleep‐related hypermotor epilepsy with S284L‐mutant α4 subunit of nicotinic ACh receptor

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The mechanisms causing spontaneous epileptic seizures, including carbamazepine‐resistant/zonisamide ‐sensitive seizures and comorbidity in autosomal dominant sleep‐related hypermotor epilepsy (ADSHE) are unclear. This study investigated functional abnormalities in thalamocortical transmission in… Click to show full abstract

The mechanisms causing spontaneous epileptic seizures, including carbamazepine‐resistant/zonisamide ‐sensitive seizures and comorbidity in autosomal dominant sleep‐related hypermotor epilepsy (ADSHE) are unclear. This study investigated functional abnormalities in thalamocortical transmission in transgenic rats bearing rat S286L‐mutant Chrna4 (S286L‐TG) of α4 subunit of the nicotinic ACh receptor (nAChR) that corresponds to the human S284L‐mutant CHRNA4.

Keywords: subunit nicotinic; hypermotor epilepsy; sleep related; related hypermotor; autosomal dominant; dominant sleep

Journal Title: British Journal of Pharmacology
Year Published: 2020

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