Research Programm of Rehabilitation, Transition and Palliation in Pediatrics

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  • Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

    Ortiz, S., Affronte, L., Bagliani, C., El-kamand, S., Kan, A. S. H., Kristoffersen, I. T., Dahl, R. S., Hojte, A. F., Auvin, S., Bouman, A., Zeidler, S., Kluger, G. (Co-author), Lesca, G., Chatron, N., Goke-Samar, Z., Papadopoulou, M. T., Terzi, M. A. P., Schaefer, E., de Saint Martin, A. & Baer, S. & 54 others, Al Owain, M., Takroni, S., Al-Dhalaan, H., Bonanni, P., Rossi, A., Zanotta, N., Trivisano, M., Specchio, N., de Dominicis, A., Striano, P., Orsini, A., Mancardi, M. M., Neuens, S., Jennesson-Lyver, M., Benkel-Herrenbrueck, I., Genevieve, D., Sidlow, R., Tezcan, K., Krey, I., Lemke, J. R., Platzer, K., Lederer, D., Talvik, I., Vaher, U., Braun, K. P. J., Guerrot, A.-M., More, R., De Wachter, M., Weckhuysen, S., Carapancea, E., Cilio, M. R., Jacobs, J., Sterbova, K., Balestrini, S., Guerrini, R., Peroni, G., Mero, I.-L., ElNaggar, W., Elkhateeb, N., Schmetz, A., Chan, D. L., Mirzaa, G. M., Chaumette, B., Legrand, A., McTague, A., Stodberg, T., Harris, R. V., Berkovic, S. F., Scheffer, I. E., Chebib, M., Gardella, E., Ahring, P. K., Absalom, N. L. & Moller, R. S., 28 Jan 2026, In: EPILEPSIA. 16 p.

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

    Open Access

  • Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case series

    Melikishvili, G., Dulac, O., Koniashvili, O., Mamardashvili, G., Gachechiladze, T., Tabatadze, N., Melikishvili, M., Gamirova, R., Tomenko, T., Bakhtin, I., Freed, A., Bossi, E., Ben-Zeev, B., Kluger, G. (Co-author), Falace, A., Riva, A., Kaila, K. & Striano, P., Dec 2025, In: Epilepsia Open. 10, 6, p. 2009-2017 9 p.

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

    Open Access

  • Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study

    De Wachter, M., Millevert, C., Nicolai, J., Cats, E., Kluger, G. (Co-author), Milh, M., Cloarec, R., Syrbe, S., Arts, K., Jansen, K., Krygier, M., Smigiel, R., Auvin, S., Olofson, K., Gjerulfsen, C. E., Ceulemans, B., Moller, R. S., Bayat, A. & Weckhuysen, S., May 2025, In: EPILEPSIA. 66, 5, p. 1628-1640 13 p.

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

    Open Access
    4 Citations (Web of Science)
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  • 2 Cooperation