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Dive into the research topics where IRS - The Epilepsyhospital Filadelfia 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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  • 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 journalJournal articleResearchpeer-review

    Open Access
    File
    4 Downloads (Pure)
  • 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

  • Growth charts in DYRK1A syndrome

    Lanvin, P. L., Goronflot, T., Isidor, B., Nizon, M., Durand, B., El Chehadeh, S., Geneviève, D., Ruault, V., Fradin, M., Pasquier, L., Thévenon, J., Delobel, B., Burglen, L., Afenjar, A., Faivre, L., Francannet, C., Guerrot, A. M., Goldenberg, A., Mercier, S., Héron, D., & 10 othersLehalle, D., Mignot, C., Marey, I., Charles, P., Moutton, S., Bézieau, S., Bayat, A., Piton, A., Willems, M. & Vincent, M., Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 9-16

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

    de Nys, R., van Eyk, C. L., Ritchie, T., Møller, R. S., Scheffer, I. E., Marini, C., Bhattacharjee, R., Kumar, R. & Gecz, J., 27. Jan 2024, In: Translational Psychiatry. 14, 9 p., 65.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
    4 Downloads (Pure)
  • Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E., Hou, C., & 133 othersO’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T. C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S., Jizi, K., Bruel, A. L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Z., Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 20. Jan 2024, In: Journal of Clinical Investigation. 134, 1, e171235.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • 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