Katrine Johannesen

Search results

• 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 others, Haeusler, 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 journal › Conference abstract in journal › Research › peer-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 others, Sterbova, 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 journal › Conference abstract in journal › Research › peer-review

  Open Access

• 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 journal › Conference abstract in journal › Research › peer-review

  Open Access

• 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 journal › Conference abstract in journal › Research › peer-review

  Open Access
• 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 journal › Conference abstract in journal › Research › peer-review