title: SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.
abstract: 41 patients (19 sporadic and 22 familial) affected by autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) were analyzed for the presence of two mutations (Ser252Phe, 776ins3) in the CHRNA4 gene, reported to be associated with this disease. Electroclinical findings of sporadic forms were indistinguishable from familial ones. In none of the patients, these mutations were found by dot blot analysis with allele specific oligonucleotides. These data, obtained on the largest group so far studied, suggest the rarity of the reported mutations.
authors.affiliation: Department of Biology and Genetics for Medical Sciences, University of Milan, Italy.
authors.forename: M L
authors.initials: ML
authors.lastname: Tenchini
authors.forename: S
authors.initials: S
authors.lastname: Duga
authors.forename: M T
authors.initials: MT
authors.lastname: Bonati
authors.forename: R
authors.initials: R
authors.lastname: Asselta
authors.forename: A
authors.initials: A
authors.lastname: Oldani
authors.forename: M
authors.initials: M
authors.lastname: Zucconi
authors.forename: M
authors.initials: M
authors.lastname: Malcovati
authors.forename: L
authors.initials: L
authors.lastname: Dalprà
authors.forename: L
authors.initials: L
authors.lastname: Ferini-Strambi
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011978:Receptors, Nicotinic / Q000235:genetics*; D012893:Sleep Wake Disorders / Q000175:diagnosis / Q000235:genetics*
chemical_list: D011978:Receptors, Nicotinic