SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the ItalianADNFLE population

41 patients (19 sporadic and 22 familial) affected by autosomal dominant no cturnal frontal lobe epilepsy (ADNFLE) were analyzed for the presence of tw o mutations (Ser252Phe, 776ins3) in the CHRNA4 gene, reported to be associa ted with this disease. Electroclinical findings of sporadic forms were indi stinguishable from familial ones. In none of the patients, these mutations were found by dot blot analysis with allele specific oligonucleotides. Thes e data, obtained on the largest group so far studied, suggest the rarity of the reported mutations.