2009 Vienna - European Society of Human Genetics

Genetic analysis, linkage ans association
P17.71
Genetic screening of two tunisian families with Generalized
Epilepsy with febrile seizures plus (GEFs+)
N. Fendri- Kriaa 1 , F. Kammoun 1 , A. Rebai 2 , D. Kolsi 1 , I. Hadj Salem 3 , F. Fakhfakh
3 , C. Triki 1 ;
1 Service de Neuropédiatrie, CHU Hédi Chaker, Sfax, Tunisia, 2 Unité de Bioinformatique
et de Biostatistique, Centre de Biotechnologie de Sfax, Sfax, Tunisia,
3 Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de
Sfax, Sfax, Tunisia.
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. The micro-
satellite 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. The mutation analysis and statistical test of the
GABRG2 gene revealed a disease association with rs211014 in intron
8 (χ2= 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.