UCL Institute of Neurology
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Genetics
Population Genetics
We completed the largest population genetics study to date in epilepsy, including over two thousand patients from several countries, examined at over 4,000 SNPs, published in the Lancet Neurology. The study demonstrates our international reach, fostered through the EPIGEN consortium established to promote multinational collaboration. Increasingly, population genetics is moving towards large-scale, multi-centre, genome-wide association studies, with discoveries across a wide-range of diseases. We have also initiated, or participated in, a number of such collaborative studies, working with groups from Europe, Australia and America, and look forward to genome-wide examination of susceptibility to temporal lobe epilepsy and idiopathic generalised epilepsies in the forthcoming year. We are also developing our pharmacogenetics research, examining key variables of interest in cohorts phenotyped homogeneously across several cohorts.
The Genetic basis of epilepsy amongst the Roma Community in Bulgaria
In
collaboration with the Academy of Sciences and the University of West
Australia we are ascertaining epilepsy amongst large pedigrees in the
Roma (Gipsy) community of Bulgaria, aiming to identify the genetic
basis and causative genes.
Linkage analysis
S Shorvon, C Lo
Linkage analysis of 8 families with epilepsy is underway to identify causative genes, in collaboration with the Department of Molecular Neuroscience.

