Rikke Steensbjerre Møller

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Rikke Steensbjerre Møller

Professor, PhD

 https://orcid.org/0000-0002-9664-1448

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 2017 → Jun 2017

PhD , Medical Genetics, University of Copenhagen

2004 → 2008

MSc, Biomedicine, University of Southern Denmark

1997 → 2003

Keywords

  • Genetics
  • Epilepsia

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  • Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy

    Gjerulfsen, C. E., Oudin, M. J., Furia, F., Gverdtsiteli, S., Landmark, C. J., Trivisano, M., Balestrini, S., Guerrini, R., Aledo-Serrano, A., Morcos, R., Previtali, R., Veggiotti, P., Ricci, E., Rubboli, G., Gardella, E. & Møller, R. S., 15. Jan 2025, (E-pub ahead of print) In: Epilepsia.

    Research output: Contribution to journal › Journal article › Research › peer-review

  • Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy

    Smal, N., Millevert, C., De Wachter, M., De Vriendt, E., Eddafir, Z., Schoonjans, A. S., Bayat, A., Møller, R. S., Mei, D., Balestrini, S., Guerrini, R., Meeuwissen, M. E. C., Jansen, A. C. & Weckhuysen, S., 29. Jan 2025, (E-pub ahead of print) In: Epilepsia.

    Research output: Contribution to journal › Journal article › Research › peer-review

  • Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

    Cuccurullo, C., Cerulli Irelli, E., Ugga, L., Riva, A., D'Amico, A., Cabet, S., Lesca, G., Bilo, L., Zara, F., Iliescu, C., Barca, D., Fung, F., Helbig, K., Ortiz-Gonzalez, X., Schelhaas, H. J., Willemsen, M. H., van der Linden, I., Canafoglia, L., Courage, C. & Gommaraschi, S. & 49 others, Gonzalez-Alegre, P., Bardakjian, T., Syrbe, S., Schuler, E., Lemke, J. R., Vari, S., Roende, G., Bak, M., Huq, M., Powis, Z., Johannesen, K. M., Hammer, T. B., Møller, R. S., Rabin, R., Pappas, J., Zupanc, M. L., Zadeh, N., Cohen, J., Naidu, S., Krey, I., Saneto, R., Thies, J., Licchetta, L., Tinuper, P., Bisulli, F., Minardi, R., Bayat, A., Villeneuve, N., Molinari, F., Salimi Dafsari, H., Moller, B., Le Roux, M., Houdayer, C., Vecchi, M., Mammi, I., Fiorini, E., Proietti, J., Ferri, S., Cantalupo, G., Battaglia, D. I., Gambardella, M. L., Contaldo, I., Brogna, C., Trivisano, M., De Dominicis, A., Bova, S. M., Gardella, E., Striano, P. & Coppola, A., Sept 2024, In: Epilepsia. 65, 9, p. 2728-2750

    Research output: Contribution to journal › Journal article › Research › peer-review

  • Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity

    Lin, S. X. N., Ahring, P. K., Keramidas, A., Liao, V. W. Y., Møller, R. S., Chebib, M. & Absalom, N. L., 4. Jan 2024, In: Brain : a journal of neurology. 147, 1, p. 224-239

    Research output: Contribution to journal › Journal article › Research › peer-review

    Open Access
    File
    19 Downloads (Pure)

  • Developmental epileptic encephalopathy in DLG4-related synaptopathy

    Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A. S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A. & Gómez-Andrés, D. & 44 others, Greiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., Apr 2024, In: Epilepsia. 65, 4, p. 1029-1045

    Research output: Contribution to journal › Journal article › Research › peer-review

    Open Access
    File
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  • 2 Organisation or participation in workshops, courses or seminars

  • 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

    DOI: 10.5061/dryad.cf0hj73, https://zenodo.org/record/4957715

    Dataset

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