In the last few years the Molecular Medicine Center has been actively involved in epilepsy research. We have already established a clinical register and a sample collection with more than 140 families with epilepsy, including several multigenerational families and sporadic patients with complex non-reported phenotypes. The patients have been screened for the genes involved in the most common childhood onset epilepsy, which lead to the identification of several novel mutations in the SCN1A, SCN2A, and KCNQ2 genes. Based on that we were able to establish genotype-phenotype correlation and perform genetic counselling and prenatal diagnosis. Part of this project was funded by Medical University – Sofia.
As a follow-up of these studies, functional analyses of the aberrant proteins were initiated and currently performed in collaboration with the group of Prof. Nir Ben-Tal, Department of Biochemistry, Tel Aviv University, and Prof. Peter De Jonghe, VIB-Department of Molecular Genetics, Belgium.
The pioneering research of our team over the last 10 years was focused on the comprehensive characterization of the European Roma/Gypsies as a founder population of special potential for genetic research. As a result, we initiated clinical and genetic analyses of Gypsy families with epilepsy, funded by the National Science Fund, Programme “Genomics” 2003-2007. We have identified a number of Gypsy families with epilepsy, some known to have multiple affected members and others potentially expandable. So far, five large pedigrees with >10 affected members and a number of smaller families and singletons have been collected and characterized. In 9 families there are anamnestic and clinical evidences for partial epilepsy. We identified a large Gypsy kindred where partial epilepsy syndrome and affective disorders co-morbidity exists. The subsequent genome-wide linkage analysis led to the identification of a novel epilepsy locus on 5q31.3-q32. The genetic analysis was performed in collaboration with the team of Prof. Luba Kalaydjieva, Laboratory for Molecular Genetics, Centre for Medical Research and WAIMR, . In three other families, where most of the affected members have generalized epilepsy with febrile seizure-related (GEFS+ related) syndromes, linkage analysis deﬁnitively excluded all known GEFS+ loci, underscoring their potential for identification of additional novel epilepsy loci and genes.
Prof. Ivailo Tournev MD, PhD,
Boriana Ishpekova, MD, PhD,
Chief Assist. Prof. Velina Guerguelcheva MD, PhD,
Assoc. Prof. Veneta Bozinova, MD, PhD, Department of Neurology, MU - Sofia ;Assoc. Prof. Ivan Litvinenko MD, PhD, Department of Pediatrics, MU – Sofia.