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Scientific article
Case report
Open access
English

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

Published inEpilepsy & behavior, vol. 105, 106944
Publication date2020-04
First online date2020-02-22
Abstract

Objective: 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.

Methods: Transdermal 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.

Results: A 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 areas of executive functions.

Significance: Nicotine appears to be a mechanistic treatment for this specific disorder, probably because of desensitization of the mutated receptors. It may control seizures resistant to conventional drugs for epilepsy and impact socioeducational function in children. This mode of precision therapy should receive more attention and should be available to more patients with uncontrolled CHRNA4-related ADSHE across the age span.

eng
Keywords
  • Autosomal dominant sleep-related hypermotor epilepsy (ADSHE)
  • Nicotine
  • Nicotinic acetylcholine receptor
  • Precision therapy
  • P.S280F-CHRNA4
  • Adolescent
  • Child
  • Epilepsy, Reflex / diagnosis
  • Epilepsy, Reflex / drug therapy
  • Epilepsy, Reflex / genetics
  • Humans
  • Male
  • Mutation / genetics
  • Nicotine / administration & dosage
  • Receptors, Nicotinic / genetics
  • Sleep / drug effects
  • Sleep / genetics
  • Tobacco Use Cessation Devices
  • Treatment Outcome
Citation (ISO format)
LOSSIUS, Kristine et al. Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy. In: Epilepsy & behavior, 2020, vol. 105, p. 106944. doi: 10.1016/j.yebeh.2020.106944
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Article (Published version)
Identifiers
ISSN of the journal1525-5050
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