Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy

Publication date: April 2020Source: Epilepsy & Behavior, Volume 105Author(s): Kristine Lossius, Anne de Saint Martin, Sverre Myren-Svelstad, Marit Bjørnvold, Guro Minken, Caroline Seegmuller, Maria Paola Valenti Hirsch, Jamel Chelly, Ortrud Steinlein, Fabienne Picard, Eylert BrodtkorbAbstractObjectiveAutosomal 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.MethodsTransdermal nicotine was applied to three boys, two aged 10 years (7 mg/24 h) and one six years (3.5 mg/24 h). Autosomal dominant sleep-related hypermotor epilepsy was caused by the p.S280F-CHRNA4 (cholinergic receptor, nicotinic, alpha polypeptide 4) mutation. The children suffered from frequent, persistent nocturnal seizures and had developed educational and psychosocial problems. Seizure frequency and cognitive and behavioral parameters were assessed before and after treatment.ResultsA striking seizure reduction was reported soon after treatment onset. Hypermotor seizures disappeared; only sporadic arousals, sometimes with minor motor elements, were observed. Psychometric testing documented improvement in cognitive domains such as visuospatial ability, processing speed, memory, and some area...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research