Abstracts

Idiopathic generalized epilepsies have been reported to constitute at least 8% of all epilepsies in population-based studies performed in Honduras (Medina et al, Epilepsia 1997: 38(suppl 7):8). A cohort of 25 families were evaluated in order to perform clinical/syndromatic classification and linkage studies to find chromosome loci. Twenty five patients and families were recruited between 1993 and 2004 from one private and one public epilepsy clinic (University Hospital) at Honduras. The phenotype determination for both probands and non-proband members was done according to electroclinical criteria and the International League Against Epilepsy classifications for seizures and syndromes were applied. Previous IRB approval and consent form, all patients underwent video-EEG and at least two independent epileptological evaluations. Multiplex/multigenerational families were selected to perform a screen for nine IGE loci reported in medical literature for IGE with absence and myoclonias. Fluorescent microstelites and the linkage software by Jurg and Ott (Am J Hum Genet 1974;28:528-9) were selected for loci study. Eleven families met criteria for classic juvenile myoclonic epilepsy (JME), 5 had childhood absence (CAE) evolving to JME, 4 had persiting CAE, one had CAE, one had idiopathic myoclonic astatic epilepsy, and two met criteria for generalized epilepsy with febriles seizures plus (GEFS+). Four families were simplex and 21 were multiplex/multigenerational. Our results show the presence in Honduras of most the IGE reported in medical literature. Results on the linkage analyses on six JME loci, two CAE loci and one GEFS+ loci will be presented. (Supported by NINDS Grant No. 5RO1NS042376-03 and local funds)