Open AccessSER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population
Author(s) -
Maria Luisa Tenchini,
Stefano Duga,
Maria Teresa Bonati,
Rosanna Asselta,
Alessandro Oldani,
Marco Zucconi,
Massimo Malcovati,
Leda Dalprà,
Luigi FeriniStrambi
Publication year - 1999
Publication title -
sleep
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.222
H-Index - 207
eISSN - 1550-9109
pISSN - 0161-8105
DOI - 10.1093/sleep/22.5.637
Subject(s) - genetics , epilepsy , gene , allele , exon , mutation , biology , medicine , microbiology and biotechnology , neuroscience
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.