4th Dianalund International Conference on Epilepsy:
Precision medicine in genetic epilepsies – where are we now, and where are we heading?
Comwell, Korsør, Denmark
12 - 13 November 2020
Treatment of epilepsy remains largely empirical, and individual prescribing based on the mechanism of action is generally not possible. However, recent findings in genetic epilepsies have elucidated some mechanisms of epileptogenesis, unraveling the role of a number of genes with different functions, such as ion channels, proteins associated to the vesical synaptic cycle or involved in energy metabolism. The advent of Next Generation Sequencing is providing precision genetics enabling precision medicine in approximately one quarter of patients, illustrating the enormous utility of genetic testing for therapeutic decision-making. Although any patient with refractory epilepsy may benefit from genetic screening, such testing will be of most importance in patients with early-onset seizures (less than 3 years of age), a family history of seizures, associated neurological deficit, or learning intellectual disability. A major goal of the genetic studies is the identification of novel drug targets and tailored therapies based on the cause of disease. The discovery of specific genetic mutations has also helped us to repurpose drugs with specific actions which may have been used in entirely unrelated conditions.
In this conference, clinicians, geneticists and basic scientists aim to provide an updated overview of the state-of-the art of precision medicine in those genetic epilepsies in which a precision medicine approach has been already implemented, or in which promising data are under evaluation. Within the next future, precision medicine will hopefully move within the reach of more patients, and as genetic technologies advance, a comprehensive approach informed also of the contribution of genetics in treatment choices will become an increasingly important part of the clinical management of the epilepsy patients.
Neurologists, child neurologists, epileptologists, clinical neurophysiologists, geneticists with interests in epilepsy, basic scientists with interests in epilepsy
Eleonora Aronica (The Netherlands), Berten Ceulemans (Belgium), Elena Gardella (Denmark), Renzo Guerrini (Italy),
Henrike Heyne (Finland/USA), Christina Høi-Hansen (Denmark), Katrine M. Johannesen (Denmark), Johannes Lemke
(Germany), Holger Lerche (Germany), Rikke S. Møller (Denmark), Marina Nikanorova (Denmark), Steven Petrou (Australia)
Annapurna Poduri (USA), Guido Rubboli (Denmark), Jose’ Serratosa (Spain), Sanjay Sisodiya (UK), Nicola Specchio (Italy)
Joseph Symonds (UK), Steffen Syrbe (Germany), Maurizio Taglialatela (Italy), Sarah Weckhuysen (Belgium)
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