Guido Rubboli
Clinical Professor
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Defining the phenotypic spectrum of SLC6A1 mutations
Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A. E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M. T., Chelly, J., Piton, A., Merritt, J. L., Rodan, L. H., Tan, W. H., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M. & 32 others, , Feb 2018, In: Epilepsia. 59, 2, p. 389-402 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
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The spectrum of intermediate SCN8A-related epilepsy
Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A. E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, , 2019, In: Epilepsia. 60, 5, p. 830-844 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M. & 109 others, , 2022, In: Brain. 145, 9, p. 2991-3009 19 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Editorial: SLC6A1: the past, present and future
Johannesen, K. M., Pérez-Palma, E. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 2 p., 1289821.Research output: Contribution to journal › Editorial › Research › peer-review
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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders
Johannesen, K. M., Nielsen, Jimmi, Sabers, A., Isidor, B., Kattentidt-Mouravieva, A. A., Zieglgänsberger, D., Heidlebaugh, A. R., Oetjens, K. F., Vidal, A. A., Christensen, J., Tiller, J., Freed, A. N., Møller, R. S. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 7 p., 1216653.Research output: Contribution to journal › Journal article › Research › peer-review
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum
Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denommé-Pichon, A. S., Coubes, C., Larson, A. & 30 others, , 2021, In: Neurology: Genetics. 7, 6, 14 p., e613.Research output: Contribution to journal › Journal article › Research › peer-review
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Early mortality in SCN8A-related epilepsies
Johannesen, K. M., Gardella, E., Scheffer, I., Howell, K., Smith, D. M., Helbig, I., Møller, R. S. & Rubboli, Guido, 2018, In: Epilepsy Research. 143, p. 79-81 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
Perampanel as add-on treatment in refractory focal epilepsy. The Dianalund experience
Juhl, C. S. & Rubboli, Guido, 2016, In: Acta Neurologica Scandinavica. 134, 5, p. 374-377 4 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
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Developmental epileptic encephalopathy in DLG4-related synaptopathy
Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D. & 44 others, , 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders: [Inkl. Correction]
Kassabian, B., Fenger, C. D., Willems, M., Aledo-Serrano, A., Linnankivi, T., McDonnell, P. P., Lusk, L., Jepsen, B. S., Bayat, M., Kattentidt, A., Vidal, A. A., Valero-Lopez, G., Alarcon-Martinez, H., Goodspeed, K., van Slegtenhorst, M., Barakat, T. S., Møller, R. S., Johannesen, K. M. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 11 p., 1219262.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 119733516
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The landscape of epilepsy-related GATOR1 variants
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350
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Standardized computer-based organized reporting of EEG: SCORE - Second version
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162
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Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study
Research output: Contribution to journal › Journal article › Research › peer-review
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