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.