The Clinical Takeaway: Epilepsy – issues relating to diagnosis

Prof. Sam Berkovic is Laureate Professor in the Department of Medicine, University of Melbourne, and Director of the Epilepsy Research Centre at Austin Health. His early work was in neuroimaging where he was a pioneer in the application of MRI and single photon emission computed tomography in epilepsy, and especially epilepsy surgery. This work was rapidly applied to routine clinical use and remains so today. In the late 1980s he realised the potential for clinical genetic research in epilepsy, utilising the NHMRC twin registry and working with large pedigrees. This led, together with molecular genetic collaborators in Adelaide and Germany, to the discovery of the first gene for epilepsy in 1995. Subsequently he and his group have been involved in the discovery of many of the known epilepsy genes. This has changed the conceptualisation of the causes of epilepsy, is having a major impact on directions of epilepsy research and has directly translated to impacting daily clinical diagnosis and counselling, as well as refining treatment. He heads a large group integrating genetic, imaging and physiological studies in epilepsy. His current passions are completing the understanding of the complex genetic architecture of epilepsies and developing precision therapies for severe genetic epilepsies. He was elected a Fellow of the Australian Academy of Science in 2005, Fellow of the Royal Society (London) in 2007, Companion of the Order of Australia in 2014 and a member of the National Academy of Medicine (USA) in 2017. Together with Ingrid Scheffer, he was awarded the Prime Minister’s Prize for Science in 2014.