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      https://www.ias.ac.in/article/fulltext/jgen/097/02/0391-0398

    • Keywords

       

      sensory epilepsy; seizures; genetic heterogeneity; linkage mapping

    • Abstract

       

      Hot water epilepsy (HWE) is a rare formof sensory epilepsy where seizures are precipitated by a stimulus of contact with hot water. While earlier studies have suggested causal role of genes for HWE, specific underpinnings are beginning to be explored only recently. We carried out a whole genome-based linkage analysis in a family where most of its members affected by HWE and found evidence of a previously unknown locus at chromosome 9p24.3-p23. Parametric two-point analysis suggested linkage with the greatest LOD score of 3.42 for the marker D9S286 at 9p24.1 at recombination fraction (θ) = 0, 90% penetrance value and 1% phenocopy rate. The highestmultipoint LODscore of 3.42was obtained for same marker at 9p24. The critical genetic interval of about 10 Mb of DNA was defined by the markers D9S917 and D9S168 corresponding to the centromere-distal and centromere-proximal recombination boundaries, respectively. This observation along with our previous findings of hot water genetic loci at 10q21.3-q22.3 (OMIM: 613339) and 4q24-q28 (OMIM: 613340), indicates unanticipated genetic heterogeneity for the disorder in families from a relatively small geographic region in the southern parts of India.

    • Author Affiliations

       

      KALPITA R. KARAN1 PARTHASARTHY SATISHCHANDRA2 SANJIB SINHA2 ANURANJAN ANAND1 3

      1. Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru 560 064, India
      2. Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India
      3. Neuroscience Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru 560 064, India
    • Dates

       
  • Journal of Genetics | News

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