Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus.
OBJECTIVE
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.


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.
Fendri-Kriaa
N
N
Service de Neuropédiatrie, CHU Hédi Chaker, 3029 Sfax, Tunisia.
Kammoun
F
F
Rebai
A
A
Kolsi
D
D
Hadj Salem
I
I
Fakhfakh
F
F
Triki
C
C
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004829:Epilepsy, Generalized / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D014416:Tunisia; D055815:Young Adult
C546279:GABRG2 protein, human; D005819:Genetic Markers; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D011963:Receptors, GABA-A; C568242:SCN1A protein, human; D015222:Sodium Channels