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

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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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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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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