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, 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
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  • 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
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  • Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

    Peng, S. X., Pei, J., Rinaldi, B., Chen, J., Ge, Y. H., Jia, M., Wang, J., Delahaye-Duriez, A., Sun, J. H., Zang, Y. Y., Shi, Y. Y., Zhang, N., Gao, X., Milani, D., Xu, X., Sheng, N., Gerard, B., Zhang, C., Bayat, A., Liu, N. & 2 others, Yang, J. J. & Shi, Y. S., 2022, (E-pub ahead of print) In: Molecular Psychiatry.

    Research output: Contribution to journalJournal articleResearchpeer-review