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

Authors
  • Kapoor, Ashish1
  • Ratnapriya, R
  • Kuruttukulam, Gigy
  • Anand, Anuranjan
  • 1 Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, 560064, Karnataka, India. , (India)
Type
Published Article
Journal
Human genetics
Publication Date
Jul 01, 2007
Volume
121
Issue
6
Pages
655–662
Identifiers
PMID: 17431681
Source
Medline
License
Unknown

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.

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