8
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14.

      1 , , ,
      Human genetics
      Springer Nature

      Read this article at

      ScienceOpenPublisherPubMed
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Juvenile myoclonic epilepsy is a clinically well-defined, age-related common idiopathic generalized epilepsy syndrome with substantial genetic basis to its etiology. We report identification of a novel epilepsy locus at chromosome 5q12-q14 in a family exhibiting autosomal dominant form of juvenile myoclonic epilepsy from south India. The highest two-point LOD score of 3.3344 was obtained for the microsatellite markers D5S641 and D5S459 at 5q14. Centromeric and telomeric chromosomal boundaries of the locus were defined by D5S624 and D5S428, respectively. The 5q12-q14 locus encompasses about 25 megabases of the genomic region and harbours several candidate genes. Further work involving a detailed mutational analysis of the locus, to isolate the gene responsible for the epilepsy disorder in the family, shall help enhance our understanding of molecular basis of epilepsy disorders.

          Related collections

          Author and article information

          Journal
          Hum. Genet.
          Human genetics
          Springer Nature
          0340-6717
          0340-6717
          Jul 2007
          : 121
          : 6
          Affiliations
          [1 ] Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, 560064, Karnataka, India.
          Article
          10.1007/s00439-007-0360-0
          17431681
          016bb90d-e2b5-4cad-9bd1-f048ef865387
          History

          Comments

          Comment on this article