Neuropediatrics 2006; 37 - THP72
DOI: 10.1055/s-2006-945895

ASSOCIATION BETWEEN GEFS+3 LOCUS AND GEFS+ SYNDROME IN TWO AFFECTED TUNISIAN FAMILIES

C Triki 1, F Kammoun 1, N Fendri 1, D Kolsi 1, F Fakhfakh 1, A Rebai 1
  • 1Hôpital Habib Bourguiba, Sfax, Tunisia

Objectives: We describe two Tunisian families with generalized epilepsy with febrile seizures plus (GEFS+). The aim of this report is to search for a linkage and/or association between the known FS and GEFS+ loci and GEFS+ syndrome in affected Tunisians families.

Methods: A total of 14 patients with GEFS+ and 55 controls belonging to two Tunisian families affected with GEFS+ syndrome had clinical and genetic studies. Genetic analysis of genomic DNA has been performed using microsatellite markers spanning the FS and GEFS+ loci. Statistical analysis has been realized by intrafamilial association test (FBAT) and by parametric linkage (LOD scores) and non-parametric linkage (NPL) tests. In addition, a transmission disequilibrium test (TDT) has been performed using the computer program GENHUNTER v 2.1. Results: Epilepsy phenotypes included FS in 4 patients (A-IV: 10; A-IV: 3; A-IV: 18; A-IV: 22). Median age at FS onset was 2 years (range, 6 months to 5 years). One patient (B-V: 3) had FS+ (onset seizures at 6 years). FS+ associated with generalized tonicoclonic seizures were found in 3 patients (A-V: 27; A-V: 30; A-VI: 13); FS+ with myoclonic seizure in one patient (B-V: 6). 5 patients have idiopathic generalized epilepsy (A-IV: 24; A-V: 5; A-V: 7; A-V: 25; B-V: 3). Median age at a febrile seizures onset was 17 years (range, 14 to 25 years). The result of FBAT test revealed an association between GEFS+3 locus and GEFS+ syndrome in these two Tunisian families with a very significant P value.

Conclusion: This association was also confirmed by results of TDT test. A search of mutation in GABRG2 gene is a performing.