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  • 2022

    Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype

    Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Perez, E., Lal, D., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M., Deprez, M., de Waele, L., Brilstra, E., Verbeek, N. E., van Kempen, M. V. K., Visser, G., Braakman, H. M. H., & 20 othersHaeusler, M., Elbracht, M., Sternman, D., Haeusler, M., Elbracht, M., Sternman, D., Vaher, U., Smol, T., Kennedy, J., Klein, K. M., Au, B., Smyth, K., Morgan, T., Dewenter, M., Dinopoulos, A., Lederer, D., Liao, V., Ahring, P. K., Moller, R. S. & Gardella, E., 1. Apr 2022, In: European Journal of Human Genetics. 30, Suppl. 1, p. 278-279

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • 2021

    Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

    Johannesen, K. M., Liu, Y., Gjerulfsen, C. E., Koko, M., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N., Lauxmann, S., Krueger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M., & 106 othersSterbova, K., Lassuthova, P., Vlckova, M., Lemke, J., Krey, I., Heine, C., Wieczorek, D., Kroell, J., Lund, C., Klein, K. M., Au, P. B., Rho, J., Ho, A., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoi-Hansen, C., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., van der Zwaag, B., Harder, A., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Le, N. M., Christensen, J., Schmidt-Petersen, M., Gronborg, S., Scherer, S., Howe, J., Fazeli, W., Howell, K., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B., Matricardi, S., Bonardi, C. M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vollo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caumes, R., Roubertie, A., Gelisse, P., Marini, C., Guerrini, R., Bilan, F., Koch-Hogrebe, M., Perry, S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K. E., Eisenhauer, N., Wagner, M., Savatt, J., Mueller-Schlueter, K., Bassan, H., Borovikov, A., Nassogne, M-C., Destree, A., Schoonjans, A-S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W-H., Olson, H., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M., Goldberg, E. M., Roser, T., Borggrafe, I., Brunger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Lesca, G., Hedrich, U., Benda, J., Gardella, E., Lerche, H. & Moeller, R. S., Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 34-36 80.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • Sleep problems in patients with SCN8A epilepsy

    Furia, F., Johannesen, K. M., Bonardi, C. M., Savoie, H., Scarcelli, C., Waegner, R., Clay, B., Moeller, R. S. & Gardella, E., 3. Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 221 1 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • The natural history of SCN8A epilepsy and realted diseases

    Gardella, E., Furia, F., Johannesen, K. M., Moeller, R. S. & SCN8A study group , Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 28-29 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • 2018

    Defining QARS: Catastrophic Epilepsy, Microcephaly And Encephalopathy

    Johannesen, K. M., Toulouse, J., Mitter, D., Poulat, A. -L., Ville, D., Brilstra, E., Geleijns, K. P., Born, A. P., Gardella, E., Rubboli, G., Lesca, G., Lemke, J. & Moller, R. S., 1. Dec 2018, In: Epilepsia. 59, Suppl. 3, p. S215 1 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review