title: Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy.
abstract: Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease. In all patients, the involvement of the two additional loci reported as being associated with ADNFLE (CHRNA4 gene and chromosome 15q24 region) had been previously excluded. Mutational screening was performed by sequencing a polymerase chain reaction-amplified CHRNB2 DNA fragment, spanning the whole exon 5, which contains the V287L and V287M mutations and codes for approximately 65% of the mature protein. In none of the patients were mutations in the analyzed region of CHRNB2 found. These data, obtained in the largest ADNFLE cohort so far analyzed, demonstrate the rarity of the identified CHRNB2 mutations in ADNFLE patients.
authors.affiliation: Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti, 3/5-20133 Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Duga
authors.forename: Rosanna
authors.initials: R
authors.lastname: Asselta
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bonati
authors.forename: Massimo
authors.initials: M
authors.lastname: Malcovati
authors.forename: Leda
authors.initials: L
authors.lastname: Dalprà
authors.forename: Alessandro
authors.initials: A
authors.lastname: Oldani
authors.forename: Marco
authors.initials: M
authors.lastname: Zucconi
authors.forename: Luigi
authors.initials: L
authors.lastname: Ferini-Strambi
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Tenchini
mesh_terms: D001483:Base Sequence / Q000235:genetics; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D017034:Epilepsy, Frontal Lobe / Q000235:genetics*; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D011978:Receptors, Nicotinic / Q000235:genetics*
chemical_list: D011978:Receptors, Nicotinic