Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: 'understanding the nicotinic acetylcholine receptor (nAChR)'

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.