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

Pineda-Trujillo N., Carrizosa J., Cornejo W., Arias W., Franco C., Cabrera D., Bedoya G., Ruiz-Linares A.

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.

Seizure 14:123-128(2005) [PubMed] [Europe PMC]

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