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 members. Together they form a unique fingerprint.

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  • Adult phenotype of KCNQ2 encephalopathy

    Boets, S., Johannesen, K. M., Destree, A., Manti, F., Ramantani, G., Lesca, G., Vercueil, L., Koenig, M. K., Striano, P., Møller, R. S., Cooper, E. & Weckhuysen, S., Jun 2022, In: Journal of Medical Genetics. 59, 6, p. 528-535 107449.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

    Hamanaka, K., Miyoshi, K., Sun, J. H., Hamada, K., Komatsubara, T., Saida, K., Tsuchida, N., Uchiyama, Y., Fujita, A., Mizuguchi, T., Gerard, B., Bayat, A., Rinaldi, B., Kato, M., Tohyama, J., Ogata, K., Shi, Y. S., Saito, K., Miyatake, S. & Matsumoto, N., Feb 2022, In: Human Genetics. 141, p. 283-293

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Assessing the landscape of STXBP1-related disorders in 534 individuals

    Xian, J., Parthasarathy, S., Ruggiero, S. M., Balagura, G., Fitch, E., Helbig, K., Gan, J., Ganesan, S., Kaufman, M. C., Ellis, C. A., Lewis-Smith, D., Galer, P., Cunningham, K., O'brien, M., Cosico, M., Baker, K., Darling, A., Veiga De Goes, F., El Achkar, C. M., Doering, J. H., & 34 othersFuria, F., Garciá-Cazorla, Á., Gardella, E., Geertjens, L., Klein, C., Kolesnik-Taylor, A., Lammertse, H., Lee, J., Mackie, A., Misra-Isrie, M., Olson, H., Sexton, E., Sheidley, B., Smith, L., Sotero, L., Stamberger, H., Syrbe, S., Thalwitzer, K. M., Van Berkel, A., Van Haelst, M., Yuskaitis, C., Weckhuysen, S., Prosser, B., Son Rigby, C., Demarest, S., Pierce, S., Zhang, Y., Møller, R. S., Bruining, H., Poduri, A., Zara, F., Verhage, M., Striano, P. & Helbig, I., May 2022, In: Brain. 145, 5, p. 1668-1683

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
  • Atypical painful stroke presentations: A review

    Bayat, M., Bayat, A. & Blauenfeldt, R. A., Jul 2022, (E-pub ahead of print) In: Acta Neurologica Scandinavica.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

    Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M., & 37 othersGeßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., Aug 2022, In: Clinical Genetics. 102, 2, p. 98-109

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
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