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Danielle Veenma

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  • Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency

    Karnstedt, M., Perszyk, R. E., Myers, S. J., McDaniels, E., Somorai, M., Borggraefe, I., Veenma, D. C. M., Schoonjans, A. S., Striano, P., Fantaneanu, T. A., Syrbe, S., Park, K., Chen, W., Yuan, H., Traynelis, S. F., Benke, T. A., Lemke, J. R. & Krey, I., 5 Jan 2026, (E-pub ahead of print) In: Epilepsia.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    1 Citation (Scopus)

  • Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder

    Jury, J., Besnard, T., Deb, W., Toutain, A., Gueguen, P., Bruel, A. L., Bouman, A., Veenma, D., Barakat, T. S., Do Souto Ferreira, L., Zwijnenburg, P. J. G., Schuhmann, S., Vasileiou, G., Egloff, M., Bilan, F., Mercier, A., Letard, P., Leitão, E., Schroeder, C. & Depienne, C. & 4 others, Blanc, P., Bézieau, S., Cogné, B. & Isidor, B., Jan 2026, In: Journal of medical genetics. 63, 1, p. 34-39 6 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  • CAMK2; four genes, one syndrome? Delineation of genotype–phenotype correlations

    Cheung, J. S., van Woerden, G. M. & Veenma, D. C. M., Feb 2025, In: Current Opinion in Neurobiology. 90, 102935.

    Research output: Contribution to journal › Review article › Academic › peer-review

    Open Access
    File
    4 Citations (Scopus)
    110 Downloads (Pure)

  • Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

    Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J. H., Ge, Y. H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A. & Emrick, L. T. & 67 others, Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Ben-Zeev, B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 1 May 2024, In: Brain : a journal of neurology. 147, 5, p. 1837-1855 19 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    18 Citations (Scopus)
    134 Downloads (Pure)

  • Developmental epileptic encephalopathy in <i>DLG4</i>-related synaptopathy

    Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernandez, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denomme-Pichon, A.-S., Dye, T. J., Fazzi, E., Felt, R., Fernandez-Jaen, A., Fernandez-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A. & Gomez-Andres, D. & 44 others, Greiner, H. M., Guerrini, R., Haanpaeae, 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., Moller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodriguez-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., Tuemer, Z. & Rubboli, G., Apr 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    7 Citations (Scopus)
    35 Downloads (Pure)
View all 25 research outputs