Pinpointing
the gene behind childhood absence epilepsy
Grant round winners 2008
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.
