SciELO - Scientific Electronic Library Online

vol.34 número3Budget impact of dabigatran compared to apixaban, rivaroxaban and warfarin for the treatment of non-valvular atrial fibrillation in ColombiaEndovascular management of intracranial vertebral stenosis with a coronary balloon-expandable-stent: report of two cases and literature review índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados




Links relacionados

  • Em processo de indexaçãoCitado por Google
  • Não possue artigos similaresSimilares em SciELO
  • Em processo de indexaçãoSimilares em Google


Acta Neurológica Colombiana

versão impressa ISSN 0120-8748


TEJADA MORENO, Johanna et al. Susceptibility gene variants in genetic generalized epilepsy in Colombian families. Acta Neurol Colomb. [online]. 2018, vol.34, n.3, pp.175-183. ISSN 0120-8748.


Generalized genetic epilepsies (GGE) follow complex inheritance patterns. This phenotype is due to interaction of several genes with environmental factors. The genes/loci most consistently associated with this group of epilepsies are ECA1, ECA2-GABRG2, ECA3-CLCN2 (also known as JME6-CLCN2), JME1-EFHC1 and JME5-GABRA1. In Colombia, little is known about the contribution of gene variants to susceptibility to GGE forms. Our purpose was to evaluate the role of the five most consistently associated genes /loci in other studies, in Colombian families set with GGE.


Genotypes were obtained by means of PCR-RFLP and ARMS-Tetraprimer. Statistical analyses included both allelic and haplotypic association tests, in addition to gene-gene interaction tests. Two genetic markers were tested for each gene/locus.


Ninety-eight families were included, from which 51 had absence epilepsy, and 47 had juvenile myoclonic epilepsy. A significant interaction was identified between allele G at marker rs4428455 (P-value = 0.0008; gene GABRA1) and allele G at marker rs719395 (P-value = 0.002; gene EFHC1).


Our results suggest that these two markers are associated with GGE in the Colombian population. Other genes not analyzed could be tested using a larger sample size.

Palavras-chave : epilepsy; epilepsy, generalized; genes; genetic association studies (MeSH).

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )