부산대학교 도서관

The objective was to investigate whether the described mutations of the SCN1A, SCN1B and GABRG2 genes are associated to generalised epilepsy with febrile seizure plus (GEFS+) in two Tunisian families. We performed a genetic study of two multigenerational Tunisian families with GEFS+ spectrum. The molecular analysis included a PCR amplification of SCN1B, SCN1A and GAGRG2 exons, then a screening of the known SCN1B, SCN1A and GABRG2 gene mutations by direct sequencing. The data excluded the involvement of all known published mutations. However, an insertion of a T nucleotide at a heterozygous state within the intron 12 of the SCN1A gene has been identified in two probands and their parents. Our results corroborate the genetic heterogeneity of GEFS+ predominantly in epilepsy patients of different countries and ethnic groups. [ABSTRACT FROM AUTHOR]