Pinpointing the gene behind childhood absence epilepsy
Grant round winners 2008
£54,340 over 12 months
Dr Kate Everett
Institute of Child Health, University College London
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. Dr Everett has been awarded £54,340 over 12 months for this work. Confirmation would allow the development of new diagnostic tests for this syndrome and possibly even the development of new drugs.
This is one of nine grants made by Epilepsy Research UK in 2008. Read about the other grants from 2008 here