Aim: We aimed to carry out a linkage analysis in 6 Iranian families to find an association between the FEB1 and GEFS+.
Introduction: Generalized Epilepsy with Febrile Seizures plus (GEFS+), is a group of genetic epilepsy syndromes, likely to commence in the first year of life, in which, patient presents with febrile and tonic-clonic seizures. GEFS+ is associated with an autosomal dominant pattern and is caused by mutations in SCN1B which encodes the beta 1 subunit of sodium channels.
Methods: We conducted a case–control study in January 2017, with 6 families, with a total of 35 members entering the study with convenience sampling method, within which, 12 members were as the case group, diagnosed with autosomal dominant GEFS+, hospitalized in Ali Asghar Children's hospital, Iran University of Medical Sciences. 23 family members with no diagnosed GEFS+ were as the control group. Written consent was obtained from all family members according to the protocols of the ethics committee of the university. Afterwards, using D8S533 marker for FEB1 gene, with a Logarithms of Odds (LOD) of 3.16, two-point linkage analysis and haplotype reconstruction was carried out using MLINK program and Simwalk2 respectively.
Results: Haplotype reconstruction analysis in the case group revealed a haplotype associated with GEFS+. However, in the control group, not such an haplotype was seen and the difference between two groups was significant (p<0.05).
Conclusion: In this study we reported a strong linkage between GEFS+ and FEB1 gene. This may clarify the etiology underlying GEFS+ and gives us chances in GEFS+ screening using FEB1.