ADNFLE frontal lobe epilepsy

Keywords Receptors, nicotinic Parkinson s disease Alzheimer s disease Schizophrenia Autism Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) CHRNA5 CHRNA3 Nicotine dependence Tourette s syndrome Down syndrome... 

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). 766... 

Clues on the physiological role of neuronal nicotinic receptors come from the identification of a form of human epilepsy that can be caused by mutations in either the a4 or the J32 nicotinic subunits. This rare syndrome, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), was the first idiopathic epilepsy to be identified as a monogenic disorder (244), and consists of seizures that occur during light... 

Autosomal dominant nocturnal frontal-lobe epilepsy (ADNFLE) is a form of partial epilepsy which is characterized by frontal-lobe motor seizures occurring during sleep (Philips et al., 1998). This disorder has been linked to a mutation in the channel-lining domain (M2) of the a 4 nicotinic receptor subunit with use-dependent potentiation of the electrophysiological response to nicotinic agonists (Lena and Changeux, 1998). If the symptoms of ADNFLE are secondary to overactivity of this receptor or unusual potentiation, then nicotinic antagonists such as mecamylamine may be helpful. 

---