Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief. They vary from simple arousals during sleep to dramatic, bizarre, hyperkinetic events with tonic or dystonic features. A minority of patients may experience aura. This disease is caused by various mutations of genes coding for subunits of neuronal acetylcholine receptor comprising the sodium/potassium ion channel. Recent advances in molecular genetics have provided the means for a better understanding of human epileptogenesis at a molecular level, which can facilitate clinical diagnosis and provides a more rational basis of therapy of this form of epilepsy. In this review, we report the recent data in the genetics of ADNFLE.
di Corcia
G
G
Department of Pediatrics, Policlinico SS Annunziata, University of Chieti, Via dei Vestini 5, 66013 Chieti, Italy.
Blasetti
A
A
De Simone
M
M
Verrotti
A
A
Chiarelli
F
F
D017034:Epilepsy, Frontal Lobe / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation / Q000235:genetics; D011978:Receptors, Nicotinic / Q000502:physiology*; D012894:Sleep Stages / Q000502:physiology
D011978:Receptors, Nicotinic