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

Nature Genetics volume 24, pages 343345 (2000) | Download Citation

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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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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

    • Andrew Escayg
    • , Stéphanie Baulac
    •  & Bruno Moulard

    These authors contributed equally to this work.

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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Correspondence to Miriam H. Meisler.

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DOI

https://doi.org/10.1038/74159

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