The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the main symptoms of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, MIM 600513). Despite the clinical homogeneity, three forms of ADNFLE have been associated with chromosomes 20 (ENFL1; ref. 1), 15 (ENFL2; ref. 2) and 1 (ENFL3; ref. 3). Mutations of the gene encoding the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4 ) have been found in ADNFLE-ENFL1 families, but these mutations account for only a small proportion of ADNFLE cases. The newly identified locus associated with ENFL3 harbours several candidate genes, including CHRNB2 (ref. 8), whose gene product, the beta 2 nicotinic acetylcholine receptor (nAChR) subunit, co-assembles with the alpha 4 nAChR subunit to form the active receptor.
De Fusco
M
M
Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, Milan, Italy.
Becchetti
A
A
Patrignani
A
A
Annesi
G
G
Gambardella
A
A
Quattrone
A
A
Ballabio
A
A
Wanke
E
E
Casari
G
G
D019943:Amino Acid Substitution; D000818:Animals; D002940:Circadian Rhythm; D004828:Epilepsies, Partial / Q000235:genetics* / Q000378:metabolism; D005091:Exons / Q000235:genetics; D005260:Female; D005625:Frontal Lobe / Q000503:physiopathology*; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics; D017136:Ion Transport; D008297:Male; D051379:Mice; D008818:Mice, Neurologic Mutants; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D009538:Nicotine / Q000494:pharmacology; D010375:Pedigree; D010641:Phenotype; D021122:Protein Subunits; D011978:Receptors, Nicotinic / Q000737:chemistry / Q000172:deficiency / Q000187:drug effects / Q000235:genetics*; D013329:Structure-Activity Relationship
D009419:Nerve Tissue Proteins; D021122:Protein Subunits; D011978:Receptors, Nicotinic; C403531:nicotinic receptor alpha4beta2; D009538:Nicotine