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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

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  • Adult phenotype of KCNQ2 encephalopathy

    Boets, S., Johannesen, K. M., Destree, A., Manti, F., Ramantani, G., Lesca, G., Vercueil, L., Koenig, M. K., Striano, P., Møller, R. S., Cooper, E. & Weckhuysen, S., Apr 2021, (E-pub ahead of print) In: Journal of Medical Genetics. 107449.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

    Vetro, A., Nielsen, H. N., Holm, R., Hevner, R. F., Parrini, E., Powis, Z., Møller, R. S., Bellan, C., Simonati, A., Lesca, G., Helbig, K. L., Palmer, E. E., Mei, D., Ballardini, E., Haeringen, A. V., Syrbe, S., Leuzzi, V., Cioni, G., Curry, C. J., Costain, G. & 10 others, Santucci, M., Chong, K., Mancini, G. M. S., Clayton-Smith, J., A-Collaborators, A. A., Bigoni, S., Scheffer, I. E., Dobyns, W. B., Vilsen, B. & Guerrini, R., 22. Jun 2021, In: Brain : a journal of neurology. 144, 5, p. 1435-1450

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Characterization of the GABRB2-Associated Neurodevelopmental Disorders

    for the GABRB2 Working Group, Mar 2021, In: Annals of Neurology. 89, 3, p. 573-586

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

    Nøstvik, M., Kateta, S. M., Schönewolf-Greulich, B., Afenjar, A., Barth, M., Boschann, F., Doummar, D., Haack, T. B., Keren, B., Livshits, L. A., Mei, D., Park, J., Pisano, T., Prouteau, C., Umair, M., Waqas, A., Ziegler, A., Guerrini, R., Møller, R. S. & Tümer, Z., Nov 2021, In: Clinical Genetics. 100, 5, p. 628-633

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2021), 23, 4, (653-660), 10.1038/s41436-020-01020-w)

    Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., Chung, W. K., Clarke, A. J., Devine, P., Donkervoort, S., Fraser, J. L., Friedman, J., Gates, A., Ghoumid, J., Hobson, E., Horvath, G. & 33 others, Keller-Ramey, J., Keren, B., Kurian, M. A., Lee, V., Leppig, K. A., Lundgren, J., McDonald, M. T., McLaughlin, H. M., McTague, A., Mefford, H. C., Mignot, C., Mikati, M. A., Nava, C., Raymond, F. L., Sampson, J. R., Sanchis-Juan, A., Shashi, V., Shieh, J. T. C., Shinawi, M., Slavotinek, A., Stödberg, T., Stong, N., Sullivan, J. A., Taylor, A. C., Toler, T. L., van den Boogaard, M. J., van der Crabben, S. N., van Gassen, K. L. I., van Jaarsveld, R. H., Møller, R. S., Lemke, J. W., Platzer, K. & Care4Rare Canada Consortium, Apr 2021, In: Genetics in Medicine. 23, 4, p. 796

    Research output: Contribution to journalComment/debateResearchpeer-review