If you made any changes in Pure these will be visible here soon.

Personal profile

Research areas

Our team at the Danish Epilepsy Centre are aiming to help improving diagnosis for individuals with severe genetic epilepsy through genetic testing, and to help raising awareness of genetic epilepsies. Making a genetic diagnosis has many implications for management and counseling, and help us to accurately document the natural history of genetic epilepsies. First step towards precision medicine is precision diagnosis!

The overall aim of our research is to unravel the underlying mechanisms of genetic epilepsies, to understand correlations with clinical symptoms 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) explore genotype-phenotype-pharmacoresponse correlations;
5) 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, Biomedine, University of Southern Denmark

19972003

Research areas

  • Genetics
  • Epilepsia

Fingerprint

Fingerprints are formed from scientific publications and create an index of weighted keyword concepts for each individual researcher.
  • 1 Similar Profiles

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
  • 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