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

Nature Genetics volume 24, pages 343–345 (2000)Cite this article

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.

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Figure 1: Sequencing, exon organization and evolutionary conservation of SCN1A.
Figure 2: Mutation detection and co-segregation with GEFS+.

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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).

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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

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  1. Andrew Escayg
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  2. Bryan T. MacDonald
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  10. Denys Chaigne
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  11. Catherine Buresi
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  12. Alain Malafosse
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Corresponding author

Correspondence to Miriam H. Meisler.

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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

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