Skip to main content

Advertisement

SpringerLink
Log in

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

  • Brief Communication
  • Published:

From Nature Genetics

View current issue Submit your manuscript

Abstract

Generalized epilepsy with febrile seizures plus type 2 (GEFS+2, MIM 604233) is an autosomal dominant disorder characterized by febrile seizures in children and afebrile seizures in adults. We describe here two mutations of the gene encoding the neuronal voltage-gated sodium channel (SCN1A), Thr875Met and Arg1648His, that co-segregate with the disorder in two families with GEFS+ linked to chromosome 2q. These mutations identify a new disease gene for human inherited epilepsy.

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: Sequencing, exon organization and evolutionary conservation of SCN1A.
Figure 2: Mutation detection and co-segregation with GEFS+.

Similar content being viewed by others

References

  1. Scheffer, I.E. & Berkovic, S.F. Brain 120, 479–490 (1997).

    Article  Google Scholar 

  2. Wallace, R.H. et al. Nature Genet. 19, 366–370 (1998).

    Article  CAS  Google Scholar 

  3. Moulard, B. et al. Am. J. Hum. Genet. 65, 1396–1400 (1999).

    Article  CAS  Google Scholar 

  4. Baulac, S. et al. Am. J. Hum. Genet. 65, 1078–1085 (1999).

    Article  CAS  Google Scholar 

  5. Plummer, N. & Meisler, M.H. Genomics 57, 323–331 (1999).

    Article  CAS  Google Scholar 

  6. Noda, M. & Numa, S. J. Recept. Res. 7, 467–497 (1987).

    Article  CAS  Google Scholar 

  7. Smith, R.D. & Goldin, A.L. J. Neurosci. 18, 811–820 (1998).

    Article  CAS  Google Scholar 

  8. Escayg, A. et al. Am. J. Hum. Genet. (in press).

  9. Kühn, F.J.P. & Greeff, N.G. J. Gen. Physiol. 114, 167–183 (1999).

    Article  Google Scholar 

  10. Bulman, D.E. Hum. Mol. Genet. 6, 1679–1685 (1997).

    Article  CAS  Google Scholar 

  11. Lehmann-Horn, F. & Jurkat-Rott, K. Physiol. Rev. 79, 1317–1372 (1999).

    Article  CAS  Google Scholar 

  12. Wattanasirichaigoon, D. et al. Am. J. Med. Genet. 86, 470–476 (1999).

    Article  CAS  Google Scholar 

  13. Catterall, W.A. Adv. Neurol. 79, 441–456 (1999).

    CAS  PubMed  Google Scholar 

  14. Peiffer, A. et al. Ann. Neurol. 46, 671–678 (1999).

    Article  CAS  Google Scholar 

  15. Lopes-Cendes, I.E. et al. Am. J. Hum. Genet. 66, 698–701 (2000).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank L. Isom and L.K. Sprunger for helpful discussions, and F. Picard and J.-F. Prudhomme for participation in identification of family 2. This research was supported by NIH Grant NS34509 (Group 1), the Association pour le Développement de la Recherche sur les Maladies Génétiques Neurologiques et Psychiatriques (ADRMGNP) (Group 2) and the Swiss National Science Foundation (Group 3).

Author information

Author notes

  1. Andrew Escayg, Stéphanie Baulac, Bruno Moulard, Denys Chaigne, Catherine Buresi and Alain Malafosse: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA

    Andrew Escayg, Bryan T. MacDonald & Miriam H. Meisler

  2. INSERM U289, Hôpital de la Salpêtrière, Paris, France

    Stéphanie Baulac, Gilles Huberfeld, Alexis Brice & Eric LeGuern

  3. Centre d'Epilepsie, Hôpital de la Salpêtrière, Paris, France

    Isabelle An-Gourfinkel

  4. Généthon, Evry, France

    Isabelle An-Gourfinkel

  5. Consultation de Génétique Médicale, Hôpital de la Salpêtrière, Paris, France

    Alexis Brice

  6. Division de Neuropsychiatrie, Hôpitaux Universitaires de Genève, Chêne-Bourg, Switzerland

    Bruno Moulard, Catherine Buresi & Alain Malafosse

  7. Clinique Sainte-Odile, Strasbourg, France

    Denys Chaigne

  8. Group 1,

    Andrew Escayg, Bryan T. MacDonald & Miriam H. Meisler

  9. Group 2,

    Stéphanie Baulac, Gilles Huberfeld, Isabelle An-Gourfinkel, Alexis Brice & Eric LeGuern

  10. Group 3,

    Bruno Moulard, Denys Chaigne, Catherine Buresi & Alain Malafosse

Authors
  1. Andrew Escayg
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Bryan T. MacDonald
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Miriam H. Meisler
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Stéphanie Baulac
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Gilles Huberfeld
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Isabelle An-Gourfinkel
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Alexis Brice
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Eric LeGuern
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Bruno Moulard
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Denys Chaigne
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Catherine Buresi
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Alain Malafosse
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Miriam H. Meisler.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Escayg, A., MacDonald, B., Meisler, M. et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24, 343–345 (2000). https://doi.org/10.1038/74159

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/74159

  • Springer Nature America, Inc.

This article is cited by

Search

Navigation