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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Acknowledgments
We thank the family members for their participation in the study. We acknowledge assistance of Rajeesh in blood sample collection and Aruna Mahendarkar in computational analysis. Financial support from the DBT, Delhi, DAE, Mumbai and JNCASR, Bangalore is acknowledged. AK acknowledges receipt of a research fellowship from the CSIR, Delhi.
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Kapoor, A., Ratnapriya, R., Kuruttukulam, G. et al. A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12–q14. Hum Genet 121, 655–662 (2007). https://doi.org/10.1007/s00439-007-0360-0
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DOI: https://doi.org/10.1007/s00439-007-0360-0