ADNFLE

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... 

Bertrand D, Picard F, Le Hellmd S, WeUand S, Favre 1, Phillips H, Bertrand S, Berkovic SF, Malafosse A, Mulley J (2002) How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia 43(Suppl 5) 112-122... 

Willoughby JO, Pope KJ, Eaton V (2003) Nicotine as an antiepileptic agent in ADNFLE an N-of-one study. Epilepsia 44 1238-1240... 

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... 

Three mutations have been reported for the a4 subunit, all in the M2 region. Two are missense mutations [at 6 S248F (244)] or at 10 [S252L this mutation has not been characterized electrophysiologically (247)], whereas one is the insertion of a Leu after 17 (248). The two ADNFLE mutations known for the /32 subunit are at the same residue (22 ) of... 

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. 

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