A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree

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Generalized epilepsy with febrile seizures plus (GEFS+) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity. Here we report the molecular characterization of a large pedigree with a severe clinical form of GEFS+. Genetic linkage analysis implied the involvement of the FEB3 in the disease phenotype of this family (parametric two-point lod-score of 2.2). Sequencing of the SCN1A gene revealed a novel aspartic acid for glycine substitution at position 1742 of this sodium channel subunit. The amino-acid replacement lies in the pore-forming region of domain IV of SCN1A. Our observations are consistent with the genotype-phenotype correlation studies suggesting that mutations in the pore-forming loop of SCN1A can lead to a clinically more severe epileptic syndrome. © 2004 BEA Trading Ltd. Published by Elsevier Ltd. All rights reserved.

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Pineda-Trujillo, N., Carrizosa, J., Cornejo, W., Arias, W., Franco, C., Cabrera, D., … Ruíz-Linares, A. (2005). A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree. Seizure, 14(2), 123–128. https://doi.org/10.1016/j.seizure.2004.12.007

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