Research output per year
Research output per year
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 2017 → Jun 2017
PhD , Medical Genetics, University of Copenhagen
2004 → 2008
MSc, Biomedine, University of Southern Denmark
1997 → 2003
Research areas
- Genetics
- Epilepsia
Fingerprint
Fingerprints are formed from scientific publications and create an index of weighted keyword concepts for each individual researcher.
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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
Research output
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Genomics England Research Consortium & Escayg, A., 19. Apr 2023, In: Brain. 146, 4, p. 1357-1372Research output: Contribution to journal › Journal article › Research › peer-review
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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
Lyu, H., Boßelmann, C. M., Johannesen, K. M., Koko, M., Ortigoza-Escobar, J. D., Aguilera-Albesa, S., Garcia-Navas Núñez, D., Linnankivi, T., Gaily, E., van Ruiten, H. J. A., Richardson, R., Betzler, C., Horvath, G., Brilstra, E., Geerdink, N., Orsucci, D., Tessa, A., Gardella, E., Fleszar, Z., Schöls, L., & 3 others, Dec 2023, In: EBioMedicine. 98, 15 p., 104855.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile2 Downloads (Pure) -
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
Macnee, M., Pérez-Palma, E., Brünger, T., Klöckner, C., Platzer, K., Stefanski, A., Montanucci, L., Bayat, A., Radtke, M., Collins, R. L., Talkowski, M., Blankenberg, D., Møller, R. S., Lemke, J. R., Nothnagel, M., May, P. & Lal, D., 4. May 2023, In: Bioinformatics (Oxford, England). 39, 5, 6 p., btad290.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile5 Downloads (Pure) -
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Brünger, T., Pérez-Palma, E., Montanucci, L., Nothnagel, M., Møller, R. S., Schorge, S., Zuberi, S., Symonds, J., Lemke, J. R., Brunklaus, A., Traynelis, S. F., May, P. & Lal, D., Mar 2023, In: Brain. 146, 3, p. 923-934Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile4 Downloads (Pure) -
Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders (Frontiers in Neuroscience, (2023), 17, (1219262), 10.3389/fnins.2023.1219262)
Kassabian, B., Fenger, C. D., Willems, M., Aledo-Serrano, A., Linnankivi, T., McDonnell, P. P., Lusk, L., Jepsen, B. S., Bayat, M., Kattentidt-Mouravieva, A. A., Vidal, A. A., Valero-Lopez, G., Alarcon-Martinez, H., Goodspeed, K., van Slegtenhorst, M., Barakat, T. S., Møller, R. S., Johannesen, K. M. & Rubboli, G., 11. Aug 2023, In: Frontiers in Neuroscience. 17, 2 p., 1270299.Research output: Contribution to journal › Comment/debate › Research › peer-review
Open AccessFile1 Downloads (Pure)
Activities
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Supervision - Roles and Relations
Rikke Steensbjerre Møller (Participant)
26. Feb 2019Activity: Attending an event › Organisation or participation in workshops, courses or seminars
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IRS Strategiseminar for forskningsledere
Rikke Steensbjerre Møller (Participant)
4. Feb 2019 → 5. Feb 2019Activity: Attending an event › Organisation or participation in workshops, courses or seminars
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Hope for new treatment of severe epilepsy
Rikke Steensbjerre Møller (Lecturer)
17. Dec 2018Activity: Talks and presentations › Talks and presentations in private or public companies
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Epilepsy Genetics in the Era of Precision Medicine: Implications for Testing and Targeted Treatment
Rikke Steensbjerre Møller (Lecturer)
20. Nov 2018Activity: Talks and presentations › Guest lectures, external teaching and course activities at other universities
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Hope for new treatment of severe epilepsy
Rikke Steensbjerre Møller (Lecturer)
8. Nov 2018Activity: Talks and presentations › Conference presentations
Press/Media
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Kæmpebevilling skal bane vej for individuel behandling af genetisk betinget epilepsi
09/02/2023
1 Media contribution
Press/Media: Press / Media
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PROFESSORAT SKAL BIDRAGE TIL BEDRE BEHANDLING AF SJÆLDNE TYPER EPILEPSI
30/06/2020
1 Media contribution
Press/Media: Press / Media
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Ny professor i genetik og epilepsi udnævnt ved Epilepsihospitalet Filadelfia og SDU
25/06/2020
1 Media contribution
Press/Media: Press / Media
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Ny professor i genetik og epilepsi udnævnt ved Epilepsihospitalet Filadelfia og SDU
25/06/2020
1 Media contribution
Press/Media: Press / Media
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Datasets
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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
DOI: 10.5061/dryad.cf0hj73, https://zenodo.org/record/4957715
Dataset