IRS - The Epilepsyhospital Filadelfia, Research Unit of Epilepsy Genetics and Personalized Medicine (Dianalund)

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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

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  • Clinical and molecular characterization of patients with YWHAG-related epilepsy

    Cetica, V., Pisano, T., Lesca, G., Marafi, D., Licchetta, L., Riccardi, F., Mei, D., Chung, H. Y. B., Bayat, A., Balasubramanian, M., Lowenstein, D. H., Endzinienė, M., Alotaibi, M., Villeneuve, N., Jacobs, J., Isidor, B., Solazzi, R., den Hollander, N. S., Marjanovic, D., Rougeot-Jung, C., & 14 othersJung, J., Lesieur-Sebellin, M., Accogli, A., Salpietro, V., Saadi, N. W., Panagiotakaki, E., Foiadelli, T., Redon, S., Tsai, M. H., Bisulli, F., Hammer, T. B., Lupski, J. R., Parrini, E. & Guerrini, R., 16. Mar 2024, (E-pub ahead of print) In: Epilepsia.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • 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 othersGreiner, 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 journalJournal articleResearchpeer-review

  • Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy

    Ancora, C., Ortigoza-Escobar, J. D., Valletti, M. A., Furia, F., Nielsen, J. E. K., Møller, R. S. & Gardella, E., Apr 2024, In: Epileptic Disorders. 26, 2, p. 219-224

    Research output: Contribution to journalComment/debateResearchpeer-review

    Open Access
  • Fatigue predicts quality of life after leucine-rich glioma-inactivated 1-antibody encephalitis

    Binks, S. N. M., Veldsman, M., Handel, A. E., Jacob, S., Maddison, P., Coebergh, J., Michael, S., Ramanathan, S., Easton, A., Nissen, M. S., Leite, M. I., Okai, D., Blaabjerg, M., Husain, M. & Irani, S. R., 1. Feb 2024, (E-pub ahead of print) In: Annals of Clinical and Translational Neurology.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • GABRA1-Related Disorders: From Genetic to Functional Pathways

    Musto, E., Liao, V. W. Y., Johannesen, K. M., Fenger, C. D., Lederer, D., Kothur, K., Fisk, K., Bennetts, B., Vrielynck, P., Delaby, D., Ceulemans, B., Weckhuysen, S., Sparber, P., Bouman, A., Ardern-Holmes, S., Troedson, C., Battaglia, D. I., Goel, H., Feyma, T., Bakhtiari, S., & 28 othersTjoa, L., Boxill, M., Demina, N., Shchagina, O., Dadali, E., Kruer, M., Cantalupo, G., Contaldo, I., Polster, T., Isidor, B., Bova, S. M., Fazeli, W., Wouters, L., Miranda, M. J., Darra, F., Pede, E., Le Duc, D., Jamra, R. A., Küry, S., Proietti, J., McSweeney, N., Brokamp, E., Andrews, P. I., Gouray Garcia, M., Chebib, M., Møller, R. S., Ahring, P. K. & Gardella, E., Jan 2024, In: Annals of Neurology. 95, 1, p. 27-41

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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