Two new putative susceptibility loci for ADNFLE

Romina Combi, Luigi Ferini-Strambi, Arianna Montruccoli, Vera Bianchi, Massimo Malcovati, Marco Zucconi, Leda Dalprà, Maria Luisa Tenchini

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) has been up to now considered a simple Mendelian trait caused by mutations in neuronal nicotinic acetylcholine receptor (nAChR) subunit genes. We previously demonstrated that in a three-generation Italian family the disease was unlinked to all known ADNFLE loci as well as to all known brain-expressed nAChR subunits. The genome-wide linkage analysis here presented performed on this family points to the existence of two new putative ADNFLE loci on chromosomes 3p22-p24 and 8q11.2-q21.1. These findings, together with several ADNFLE characteristics, suggest that this epilepsy could be, at least in the above family, a complex disorder. In particular, we propose and discuss the hypothesis of a digenic transmission of the disease.

Original languageEnglish
Pages (from-to)257-263
Number of pages7
JournalBrain Research Bulletin
Volume67
Issue number4
DOIs
Publication statusPublished - Oct 30 2005

Keywords

  • Digenic transmission
  • Epilepsy
  • Linkage
  • Sleep disorder

ASJC Scopus subject areas

  • Neuroscience(all)

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