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

Sleep. 1999 Aug 1;22(5):637-9. doi: 10.1093/sleep/22.5.637.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Epilepsy, Frontal Lobe / diagnosis
  • Epilepsy, Frontal Lobe / genetics*
  • Ethnic Groups / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Linkage / genetics
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Mutagenesis, Insertional / genetics*
  • Mutation, Missense / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Receptors, Nicotinic / genetics*
  • Sleep Wake Disorders / diagnosis
  • Sleep Wake Disorders / genetics*


  • Receptors, Nicotinic
  • nicotinic acetylcholine receptor alpha4 subunit