RT Book, Section A1 Derry, Christopher A1 Scheffer, Ingrid E. A2 Duchowny, Michael A2 Cross, J. Helen A2 Arzimanoglou, Alexis SR Print(0) ID 1138410789 T1 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy T2 Pediatric Epilepsy YR 2017 FD 2017 PB McGraw-Hill Education PP New York, NY SN 9780071496216 LK neurology.mhmedical.com/content.aspx?aid=1138410789 RD 2024/03/28 AB Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a familial focal epilepsy syndrome characterized by frontal lobe seizures occurring predominantly during light sleep. Although not a common condition, it is increasingly recognized, with over 100 families reported.1 It was first described in 1994 in families from Australia, Canada, and the United Kingdom,2 and subsequently became the first human epilepsy for which an underlying genetic defect was identified. The first mutation to be discovered was in the CHRNA4 gene encoding the α4 subunit of the nicotinic acetylcholine receptor (nAChR),3 a ligand-gated ion channel. The subsequent discovery of further nAChR subunit gene mutations in ADNFLE,4,5,6 along with ion channel gene mutations in various other familial epilepsy syndromes, led to the concept of channelopathies as the fundamental basis to many epilepsy syndromes.7