Nicotine patch improved autosomal dominant sleep-related hypermotor epilepsy

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a genetic focal epilepsy associated with mutations in the nicotinic acetylcholine receptor (nAChR). Mutations in two major nAChR subunit genes, CHRNA4 and CHRNB2, are commonly associated with ADSHE (1). In up to one third of patients with ADSHE, seizures are refractory to anti-seizure medications. Here, we report complete seizure freedom with transdermal nicotine in two pediatric patients from the same family with medically-refractory ADSHE.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Short Communication Source Type: research