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  • Title: Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus.
    Author: Fendri-Kriaa N, Kammoun F, Rebai A, Kolsi D, Hadj Salem I, Fakhfakh F, Triki C.
    Journal: Eur J Neurol; 2009 Jun; 16(6):697-704. PubMed ID: 19236456.
    Abstract:
    BACKGROUND AND PURPOSE: Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called generalized epilepsy with febrile seizures plus (GEFS+). The aim of this report is to search for the gene responsible for GEFS+ in two affected Tunisian families. METHODS: Microsatellite marker analysis was performed on the known FS and GEFS+ loci. According to the results obtained by statistical analyses, GABRG2 on GEFS+3 locus and SCN1A on GEFS+2 locus were considered as two of the potential candidate genes and were tested for mutations by direct sequencing. RESULTS AND CONCLUSIONS: The mutation analysis and statistical test of the GABRG2 gene revealed a disease association with rs211014 in intron 8 (chi(2) = 5.25, P = 0.021). A sequencing analysis of the SCN1A gene was performed for the two tested families and showed a known mutation (c.1811G>A) and a putative disease-associated haplotype in only one family. Our results support that SCN1A is the responsible gene for GEFS+ in one of the two studied Tunisian families and suggest a positive association of an intronic SNP in the GABRG2 gene in both families.
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