Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE): Genetic appraisal of 38 cases

L. Ferini-Strambi, M. T. Bonati, A. Oldani, M. Zucconi, S. Smirne, M. Malcovati, M. L. Tenchini

Research output: Contribution to journalArticlepeer-review

Abstract

Recently, some Authors described a nocturnal frontal lobe epileptic syndrome, often misdiagnosed as parasomnia, with clear-cut autosomal dominant inheritance (ADNFLE). In one large Australian kindred, a genetic linkage of ADNFLE to chromosome 20q13.2 has been established. The gene coding for the neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4), which has recently been cloned maps in the same chromosome region (20q13.2-q13.3). A missense mutation of exon 5 of this gene associated with ADNFLE in the same Australian kindred has been reported. We selected 38 ADNFLE patients from 28 unrelated Italian families. A mutation analysis of the region of exon 5 of the CHRNA4 gene and a linkage analysis of the same locus on cliromosome 20 were performed. Our 28 pedigrees showed an autosomal dominant inheritance, with reduced penetrance (81 %) in good agreement with literature data. In none of our patients we observed the Ser252Phe mutation reported to be associated with ADNFLE. We -.ixcluded a linkage between the CHRNA4 gene and ADNFLE. Our data add evidence to the locus heterogeneity of tins syndrome. The locations of other neuronal nicotinic acetylcholine receptors subunits are candidate regions for further linkage studies in these ADNFLE families.

Original languageEnglish
Pages (from-to)26
Number of pages1
JournalItalian Journal of Neurological Sciences
Volume18
Issue number4
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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