Looking for genes associated with idiopathic
generalised epilepsy
Dr Andrew Makoff and his team at
the Institute of Psychiatry in London will
carry out a study on 469 DNA samples from
patients with idiopathic generalised epilepsy
(IGE) and their parents and some controls
without epilepsy, to identify genes that
influence susceptibility to epilepsy.
IGE affects between 20 and 40% of people
with epilepsy. It is an umbrella term for
several types of epilepsy characterised
by seizures that involve the whole brain
and which are generally not treatable by
surgery. IGEs have no clear cause (i.e.,
they are not associated with structural
brain lesions, or with abnormal neurological
symptoms). They are believed to have a largely
genetic basis: common forms of IGE are likely
to involve variation in several genes, with
the exact syndrome determined by the presence
of specific versions and/or combinations
of genes.
Dr Makoff has been awarded £46,260
over one year to carry out a "High
density SNP screen of sodium channel genes
for association with idiopathic generalised
epilepsy". He will look for gene
variants common to patients with this type
of epilepsy, using an efficient technique
called DNA pooling. Comparison to the control
samples will allow an analysis of which
genes are implicated in IGE. They will first
look at the genes governing sodium channels
in the brain, as these are already linked
to epilepsy (many AEDs such as phenytoin,
carbamazepine, and lamotrigine act by inhibiting
sodium channel activity). This will allow
them to prove the usefulness of the technique,
which can then be extended to look for other
implicated genes.
