Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter
  • Published:

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2

Nature Genetics volume 10, pages 117–118 (1995)Cite this article

Abstract

The epilepsies comprise a group of syndromes that are divided into generalized and partial (focal) types1. Familial occurrence has long been recognized but progress in mapping epilepsy genes has been slow except for rare cases where the inheritance is easily determined from classical genetic studies. Linkage is established for three generalized syndromes: the EBN1 and EBN2 genes for benign familial neonatal convulsions (BFNC) map to chromosomes 20q and 8q(refs2–5),theEPM1 gene for Unverricht-Lundborg disease maps to 21 q (ref. 6) and the gene for the northern epilepsy syndrome maps to 8p (ref. 7). A claim for linkage of the EJM1 gene for the common generalized syndrome of juvenile myoclonic epilepsy to 6p is currently in dispute8,9. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was recently described infivefamilies10,11. We now report the chromosomal assignment, to 20q13.2, for the gene for ADNFLE in one large Australian kindred with 27 affected individuals spanning six generations.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Commission on Classification and Terminology of the International League against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30, 389–399 (1989).

  2. Leppert, M. et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 337, 647–648 (1989).

    Article  CAS  Google Scholar 

  3. Malafosse, A. et al. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum. Genet. 89, 54–58 (1992).

    Article  CAS  Google Scholar 

  4. Lewis, T.B., Leach, R.J., Ward, K., O'Connell, P. & Ryan, S.G. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am. J. hum. Genet. 53, 670–676 (1993).

    CAS  PubMed  PubMed Central  Google Scholar 

  5. Berkovic, S.F. et al. Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. Arch. Neurol. 51, 1125–1128 (1994).

    Article  CAS  Google Scholar 

  6. Lehesjoki, A.E. et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc. natn. Acad. Sci. U.S.A. 88, 3696–3699 (1991).

    Article  CAS  Google Scholar 

  7. Tahvanainen, E. et al. The gene for a novel recessively inherited human childhood epilepsy with progressive mental retardation maps to the distal short arm of chromosome 8. Proc. natn. Acad. Sci. U.S.A. 91, 7267–7270 (1994).

    Article  CAS  Google Scholar 

  8. Greenberg, D.A. et al. Juvenile myoclonic epilepsy may be linked to the Bf and HLA loci on human chromosome 6. Am. J. med. Genet. 31, 185–192 (1988).

    Article  CAS  Google Scholar 

  9. Whitehouse, W.P. et al. Linkage analysis of idiopathic generalised epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence of an epilepsy locus in the HLA region. Am. J. hum. Genet. 53, 652–662 (1993).

    CAS  PubMed  PubMed Central  Google Scholar 

  10. Scheffer, I.E. et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 343, 515–517 (1994).

    Article  CAS  Google Scholar 

  11. Scheffer, I.E. et al. Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder. Brain 118, 61–73 (1995).

    Article  Google Scholar 

  12. Rise, M.L., Frankel, W.N., Coffin, J.M. & Seyfried, T.N. Genes for epilepsy mapped in the mouse. Science 251, 669–673 (1991).

    Article  Google Scholar 

  13. Plouin, P. Benign familial neonatal convulsions, in Idiopathic generalised epilepsies: clinical, experimental and genetic aspects. (eds Malafosse, A., Genton, P., Hirsch, E., Marescaux, C., Broglin, D. & Bernasconi, R.) 39–44 (John Libbey & Co Ltd, London, 1994).

    Google Scholar 

  14. Romeo, G. & McKusick, V.A. Phenotypic diversity, allelic series and modifier genes. Nature Genet. 7, 451–453 (1994).

    Article  CAS  Google Scholar 

  15. Steinlein, O., Anokhin, A., Yping, M., Schalt, E. & Vogel, F. Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity. Genomics 12, 69–73 (1992).

    Article  CAS  Google Scholar 

  16. Steinlein, O. et al. Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) to human chromosome 20q13.2–q13.3. Genomics 22, 493–495 (1994).

    Article  CAS  Google Scholar 

  17. Beck, C. et al. A nonsense mutation in the α4 subunit of the nicotinergic acetylcholine receptor (CHRNA4) cosegregates with 20q- linked benign neonatal familial convulsions (EBN1). Neurobiol. Dis. 1, 95–99 (1994).

    Article  CAS  Google Scholar 

  18. Anand, R. & Lindstrom, J. Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans. Genomics 13, 962–967 (1992).

    Article  CAS  Google Scholar 

  19. Gantz, I. et al. Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2–q13.3 by fluorescence in situ hybridization. Genomics 18, 166–167 (1993).

    Article  CAS  Google Scholar 

  20. Laurent, P. et al. Chromosomal localization of mouse and human neurotensin receptor genes. Mammal. Genome 5, 303–306 (1994).

    Article  CAS  Google Scholar 

  21. Berkovic, S.F., Howell, R.A. & Hopper, J.L. Familial temporal lobe epilepsy: a new syndrome with adolescent/adult onset and a benign course. in Epileptic Seizures and Syndromes. (ed. Wolf, P.) 259–265 (John Libbey & Co Ltd, 1995).

    Google Scholar 

  22. Scheffer, I.E., Hopkins, I.J., Harvey, A.S. & Berkovic, S.F. New autosomal dominant partial epilepsy syndrome. Ped. Neurol. 11, 95 (1994).

    Article  Google Scholar 

  23. Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794–801 (1992).

    Article  CAS  Google Scholar 

  24. Gyapay, G. et al. The 1993–94 Généthon human genetic linkage map. Nature Genet. 7, 246–339 (1994).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, 5006, Australia

    H.A. Phillips, G.E. Hollway, G.R. Sutherland & J.C. Mulley

  2. Departments of Neurology, Austin Hospital Heidelberg (Melbourne), and University of Melbourne, and Royal Children's Hospital, Melbourne, Australia

    I.E. Scheffer & S.F. Berkovic

  3. Department of Paediatrics, University of Adelaide, Adelaide, Australia

    G.E. Hollway & G.R. Sutherland

Authors
  1. H.A. Phillips
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. I.E. Scheffer
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S.F. Berkovic
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. G.E. Hollway
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. G.R. Sutherland
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. J.C. Mulley
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Phillips, H., Scheffer, I., Berkovic, S. et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 10, 117–118 (1995). https://doi.org/10.1038/ng0595-117

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0595-117

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing