Do Specific Genes Determine Major Epilepsy Syndromes?
Abstract number :
1.062
Submission category :
Year :
2001
Submission ID :
1698
Source :
www.aesnet.org
Presentation date :
12/1/2001 12:00:00 AM
Published date :
Dec 1, 2001, 06:00 AM
Authors :
M.J. Kjeldsen, MD, The Danish Twin Register, University of Southern Denmark, Odense, Denmark; L.A. Corey, Ph.D., Dept. of Human Genetics, Virginia Commonwealth University, Richmond, VA; M.L. Friis, MD, Ph.D., Dept. of Neurology, Odense University Hospital
RATIONALE: In order to examine the role of genetic factors in specific major epilepsy syndromes, monozygotic (MZ) and dizygotic (DZ) twin pairs concordant for seizures were analyzed for concordance of epilepsy syndrome.
METHODS: Twins with epilepsy and febrile seizures (FS) were ascertained from population-based twin registries in Virginia and Denmark by questionnaire. Twin pairs where both members had seizures were designated as concordant for seizures. Affected pairs were validated and classified according to the ILAE classification of epilepsies/syndromes (1989). Affected twins were classified into the following major epilepsy categories: Localization-related epilepsy, generalized epilepsy, special epilepsy syndromes (including FS) and unclassified epilepsies. Localization-related epilepsy was subclassified as idiopathic, symptomatic or cryptogenic. Generalized epilepsy was further classified as idiopathic, symptomatic or unclassified. Pairs where both twins had the same major epilepsy syndrome were classified as same-syndrome (SS) pairs and pairs where the twins had different major epilepsy syndromes were classified as mixed-syndrome (MS) pairs.
RESULTS: In this ongoing study we found 67 twin pairs concordant for seizures. In 52 (35 MZ pairs and 17 DZ pairs) of the 67 pairs we were able to classify both the seizures and epilepsy syndrome. In the MZ pairs, 33 out of 35 (94%) were SS pairs and 2 MS pairs, whereas in the DZ pairs 10 out of 17 (59%) were SS pairs and 7 MS pairs. All together 43 out of 52 twin pairs were SS pairs (83%).
CONCLUSIONS: The finding of a high concordance for major epilepsy syndromes in especially MZ but also DZ twins suggest that:
1. Genetic factors are very important in development of epilepsy
2. Specific genes or combination of genes seem to determine the major epilepsy syndromes.
Support: This was supported by a grant from NINDS (NS-31564)