Skip to main content
SpringerLink
Log in

The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy

  • Brief Communication
  • Published:

From Nature Genetics

View current issue Submit your manuscript

Abstract

Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the main symptoms of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, MIM 600513). Despite the clinical homogeneity, three forms of ADNFLE have been associated with chromosomes 20 (ENFL1; ref. 1), 15 (ENFL2; ref. 2) and 1 (ENFL3; ref. 3). Mutations of the gene encoding the neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4 ) have been found in ADNFLE-ENFL1 families4,5,6, but these mutations account for only a small proportion of ADNFLE cases7. The newly identified locus associated with ENFL3 harbours several candidate genes, including CHRNB2 (ref. 8), whose gene product, the β2 nicotinic acetylcholine receptor (nAChR) subunit, co-assembles with the α4 nAChR subunit to form the active receptor9.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Figure 1: Missense mutation co-segregation.
Figure 2: Electrophysiology of the mutant channel.

Similar content being viewed by others

References

  1. Phillips, H. A. et al. Nature Genet. 10, 117– 118 (1995).

    Article  CAS  Google Scholar 

  2. Phillips, H. A. et al. Am. J. Hum. Genet. 63, 1108– 1116 (1998).

    Article  CAS  Google Scholar 

  3. Gambardella, A. et al. Neurology (in press).

  4. Steinlein, O. K. et al. Nature Genet. 11, 201– 203 (1995).

    Article  CAS  Google Scholar 

  5. Steinlein, O. K. et al. Hum. Mol. Genet. 6, 943– 947 (1997).

    Article  CAS  Google Scholar 

  6. Hirose, S. et al. Neurology 53, 1749–1753 (1999).

    Article  CAS  Google Scholar 

  7. Tenchini, M. L. et al. Sleep 22, 637–639 (1999).

    Article  CAS  Google Scholar 

  8. Rempel, N. et al. Hum. Genet. 103, 645– 653 (1998).

    Article  CAS  Google Scholar 

  9. Flores, C. M. et al. Mol. Pharmacol. 41, 31– 37 (1992).

    CAS  Google Scholar 

  10. Karlin, A. & Akabas, M.H. Neuron 15, 1231–1244 (1995).

    Article  CAS  Google Scholar 

  11. Campos Caro, A. et al. Proc. Natl Acad. Sci. USA 93, 6118– 6123 (1996).

    Article  CAS  Google Scholar 

  12. Buisson, B. et al. J. Neurosci. 16, 7880– 7891 (1996).

    Article  CAS  Google Scholar 

  13. Fletcher, C. F. et al. Cell 87, 607–617 (1996).

    Article  CAS  Google Scholar 

  14. Burgess, D. L. et al. Cell 88, 385–392 (1997).

    Article  CAS  Google Scholar 

  15. Letts, V. A. et al. Nature Genet 19, 340– 347 (1998).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank G. Mostacciuolo and C. Gattuso for technical assistance. The work was supported by the Italian Telethon Foundation (TIGEM and Project 1046) and MURST-COFIN (1997–99, Project 9705157384, 1999–2001, to E.W.).

Author information

Authors and Affiliations

  1. Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, Italy

    Maurizio De Fusco, Andrea Patrignani, Andrea Ballabio & Giorgio Casari

  2. Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy

    Andrea Becchetti & Enzo Wanke

  3. Institute of Experimental Medicine and Biotechnology, National Research Council, Cosenza, Italy

    Grazia Annesi, Antonio Gambardella & Aldo Quattrone

  4. Institute of Neurology, School of Medicine, Catanzaro, Italy

    Antonio Gambardella & Aldo Quattrone

Authors
  1. Maurizio De Fusco
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Andrea Becchetti
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Andrea Patrignani
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Grazia Annesi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Antonio Gambardella
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Aldo Quattrone
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Andrea Ballabio
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Enzo Wanke
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Giorgio Casari
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Giorgio Casari.

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fusco, M., Becchetti, A., Patrignani, A. et al. The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 26, 275–276 (2000). https://doi.org/10.1038/81566

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/81566

  • Springer Nature America, Inc.

This article is cited by

Search

Navigation