Personal profile

Research Interests

Our team at the Danish Epilepsy Centre, Filadelfia aim to improve the quality of life, and develop new personalized treatment options, for individuals with monogenic epilepsies.

Our research strives to unravel the underlying mechanisms of genetic epilepsies, to understand genotype phenotype correlations and to find new treatment options.

Our main research areas of interest are:
1) gene discovery in neurodevelopmental disorders and epilepsy;
2) electro-clinical characterization of genetic epilepsies;
3) functional characterization of genetic variants to understand their pathomechanisms;
4) to explore genotype-phenotype-pharmacoresponse correlations;
5) to improve existing or develop new personalized therapies for individuals with genetic epilepsies.

Education/Academic qualification

Research Management Course, Copenhagen Business School

Mar 2017Jun 2017

PhD , Medical Genetics, University of Copenhagen

20042008

MSc, Biomedicine, University of Southern Denmark

19972003

Keywords

  • Genetics
  • Epilepsia

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Collaborations and top research areas from the last five years

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  • Data from: Clinical spectrum of STX1B-related epileptic disorders

    Wolking, S. (Creator), May, P. (Creator), Mei, D. (Creator), Møller, R. S. (Creator), Balestrini, S. (Creator), Helbig, K. L. (Creator), Altuzarra, C. D. (Creator), Chatron, N. (Creator), Kaiwar, C. (Creator), Stoehr, K. (Creator), Widdess-Walsh, P. (Creator), Mendelsohn, B. A. (Creator), Numis, A. (Creator), Cilio, M. R. (Creator), Paesschen, W. V. (Creator), Svendsen, L. L. (Creator), Oates, S. (Creator), Hughes, E. (Creator), Goyal, S. (Creator), Brown, K. (Creator), Saenz, M. S. (Creator), Dorn, T. (Creator), Muhle, H. (Creator), Pagnamenta, A. T. (Creator), Vavoulis, D. V. (Creator), Knight, S. J. L. (Creator), Taylor, J. C. (Creator), Canevini, M. P. (Creator), Darra, F. (Creator), Gavrilova, R. (Creator), Powis, Z. (Creator), Tang, S. (Creator), Marquetand, J. (Creator), Armstrong, M. (Creator), McHale, D. (Creator), Klee, E. W. (Creator), Kluger, G. J. (Creator), Lowenstein, D. H. (Creator), Weckhuysen, S. (Creator), Pal, D. K. (Creator), Helbig, I. (Creator), Guerrini, R. (Creator), Thomas, R. H. (Creator), Rees, M. I. (Creator), Lesca, G. (Creator), Sisodiya, S. M. (Creator), Weber, Y. G. (Creator), Lal, D. (Creator), Marini, C. (Creator), Lerche, H. (Creator) & Schubert, J. (Creator), Dryad Digital Repository, 19. Feb 2019

    Dataset