Laureate Professor, University of Melbourne
and Director of the Epilepsy Research Centre at Austin Health, Australia
THEME: TRACKING THE BRAINSTORM – HOW GENETICS AND IMAGING ARE
TRANSFORMING EPILEPSY CARE
Advances in genetics and neuroimaging the brain have transformed the way we analyse epileptic
seizures and even help treat some of them. MRI enables the simplification of surgical evaluation,
facilitating less invasive testing with less chance of damage and identifying “eloquent” areas if the
brain (areas esponsible for critical functions like language etc). With the advent of Functional MRI
(fMRI) performed in combination with electroencephalography (EEG), researchers can now
visualize the brainstorm from origin to seizure semiology. More advanced MR tractography
analysis, “Connectomics” plays a crucial role in our understanding of how the brain is connected
and how patients with epilepsy differ from control populations studied (who don’t have epilepsy).
In year 1995, the first epilepsy gene was discovered, leading the way to define the epilepsy
channelopathies. Precision medicine is the new frontier, and while the cost of the genome analysis
have gone down significantly over the years, it has become much easier to target and discover
more genes causing epilepsy.