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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 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, 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

  • 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 others, Geßner, 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., 26. May 2022, (E-pub ahead of print) In: Clinical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
    File
  • Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

    Rinaldi, B., Ge, Y. H., Freri, E., Tucci, A., Granata, T., Estienne, M., Sun, J. H., Gérard, B., Bayat, A., Efthymiou, S., Gervasini, C., Shi, Y. S., Houlden, H., Marchisio, P. & Milani, D., Jan 2022, In: Neurogenetics. 23, 1 p., 81.

    Research output: Contribution to journalComment/debateResearchpeer-review

    Open Access
    File
  • Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

    Brunklaus, A., Pérez-Palma, E., Ghanty, I., Xinge, J., Brilstra, E., Ceulemans, B., Chemaly, N., de Lange, I., Depienne, C., Guerrini, R., Mei, D., Møller, R. S., Nabbout, R., Regan, B. M., Schneider, A. L., Scheffer, I. E., Schoonjans, A. S., Symonds, J. D., Weckhuysen, S., Kattan, M. W. & 2 others, Zuberi, S. M. & Lal, D., 15. Mar 2022, In: Neurology. 98, 11, p. e1163-e1174

    Research output: Contribution to journalJournal articleResearchpeer-review