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Research project aimed at indentifying the gene(s) responsible for childhood absence epilepsy.

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Categories

  • Health/Wellbeing Health/​Wellbeing
  • Medical Research Medical Research
  • Beneficiaries

    • Children (3-18) Children (3-18)

    Situation

    Dr Kate Everett at the Institute of Child Health, University College London, is studying the causes of childhood absence epilepsy, which affects about 1 in 20 children with epilepsy. This syndrome is known to be at least partly caused by a gene change, but which gene is involved is not yet established. So far, Dr Everett has studied 63 families affected by childhood absence epilepsy. She has carried out whole genome scans on affected individuals and found a region on chromosome 3 that is definitely linked to the condition. This chromosome region contains about 30 genes, any of which could be causing the epilepsy. One gene in this region, TRAK1, has been identified as the most likely candidate. This gene controls part of the process in which receptors for the inhibitory signal chemical GABA are incorporated correctly into brain cell walls. A fault here can make cells more excitable. This study, called Association analysis and mutation screening of TRAK1 in childhood absence epilepsy, will use the latest gene technology to analyse this section of the chromosome and particularly TRAK1 in detail, to confirm or disprove its role in childhood absence epilepsy. Confirmation would allow the development of new diagnostic tests for this syndrome and possibly even the development of new drugs.

    Solution

    100%
    Categories

  • Health/Wellbeing Health/​Wellbeing
  • Medical Research Medical Research
  • Beneficiaries

    • Children (3-18) Children (3-18)