Research output per year
Research output per year
Fingerprint
Dive into the research topics where IRS - The Epilepsyhospital Filadelfia, Research Unit of Epilepsy Genetics and Personalized Medicine (Dianalund) is active. These topic labels come from the works of this organisation's researchers. Together they form a unique fingerprint.
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
Researchers
Research output
-
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
Jeanne, M., Ronce, N., Remizé, S., Arpin, S., Baujat, G., Breton, S., Petit, F., Vanlerberghe, C., Coeslier-Dieux, A., Manouvrier-Hanu, S., Vincent-Delorme, C., Khau Van Kien, P., Van-Gils, J., Quélin, C., Pasquier, L., Odent, S., Demurger, F., Laffargue, F., Francannet, C. & Martin-Coignard, D. & 37 others, , 20. Mar 2025, In: Journal of Medical Genetics. 62, 4, p. 258-267Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile14 Downloads (Pure) -
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study
De Wachter, M., Millevert, C., Nicolai, J., Cats, E., Kluger, G., Milh, M., Cloarec, R., Syrbe, S., Arts, K., Jansen, K., Krygier, M., Smigiel, R., Auvin, S., Olofson, K., Gjerulfsen, C. E., Ceulemans, B., Møller, R. S., Bayat, A. & Weckhuysen, S., 17. Feb 2025, (E-pub ahead of print) In: Epilepsia.Research output: Contribution to journal › Journal article › Research › peer-review
Open Access -
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., Apr 2025, In: Epilepsia. 66, 4, p. 1119-1128Research output: Contribution to journal › Journal article › Research › peer-review
-
Cenobamate as add-on treatment in ultra-refractory focal epilepsy: Real-world results from The Danish Epilepsy Centre, Dianalund, Denmark
Gjerulfsen, C. E., Juhl, S., Mieszczanek, K. M., Spanilá, L., Thygesen, K. S., Pavbro, A., Møller, R. S. & Rubboli, G., 15. Apr 2025, (E-pub ahead of print) In: Neurological Sciences.Research output: Contribution to journal › Journal article › Research › peer-review
Open Access -
Deciphering the Natural History of SCN8A-Related Disorders
Magielski, J. H., Cohen, S., Kaufman, M. C., Parthasarathy, S., Xian, J., Brimble, E., Fitter, N., Furia, F., Gardella, E., Møller, R. S., Helbig, I. & McKee, J. L., 13. May 2025, In: Neurology. 104, 9, e213533.Research output: Contribution to journal › Journal article › Research › peer-review
Datasets
-
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
Press/Media
-
Identification of the genetic causes of childhood epilepsy shows the way to improved treatment and care
30/08/2021
1 item of Media coverage
Press/Media: Press / Media
-
PROFESSORAT SKAL BIDRAGE TIL BEDRE BEHANDLING AF SJÆLDNE TYPER EPILEPSI
30/06/2020
1 Media contribution
Press/Media: Press / Media
-
Ny professor i genetik og epilepsi udnævnt ved Epilepsihospitalet Filadelfia og SDU
25/06/2020
1 Media contribution
Press/Media: Press / Media
-
Ny professor i genetik og epilepsi udnævnt ved Epilepsihospitalet Filadelfia og SDU
25/06/2020
1 Media contribution
Press/Media: Press / Media
-