Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy.
Fiche publication
Date publication
février 2020
Journal
Epilepsy & behavior : E&B
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Lossius K, de Saint Martin A, Myren-Svelstad S, Bjørnvold M, Minken G, Seegmuller C, Valenti Hirsch MP, Chelly J, Steinlein O, Picard F, Brodtkorb E
Lien Pubmed
Résumé
Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is characterized by hypermotor seizures and may be caused by gain-of-function mutations affecting the nicotinic acetylcholine receptor (nAChR). Benefit from nicotine consumption has been reported in adult patients with this disorder. For the first time, the effect of transdermal nicotine is evaluated in children.
Mots clés
Autosomal dominant sleep-related hypermotor epilepsy (ADSHE), Nicotine, Nicotinic acetylcholine receptor, Precision therapy, p.S280F-CHRNA4
Référence
Epilepsy Behav. 2020 Feb 22;105:106944