Guido Rubboli

Guido Rubboli

Clinical Professor

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    ORCID: 0000-0002-5309-2514

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    1. Published

      Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a “pure” model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study

      Pavlidis, E., Møller, R. S., Nikanorova, M., Kölmel, M. S., Stendevad, P., Beniczky, S., Tassinari, C. A., Rubboli, Guido & Gardella, E., 2019, In: Epilepsy and Behavior. 97, p. 244-252 9 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    2. Published

      Ictal and interictal electric source imaging in pre-surgical evaluation: a prospective study

      Sharma, P., Scherg, M., Pinborg, Lars Hageman, Fabricius, M., Rubboli, Guido, Pedersen, B., Leffers, A., Uldall, P., Jespersen, B., Brennum, J., Henriksen, O. M. & Beniczky, S., 2018, In: European Journal of Neurology. 25, 9, p. 1154-1160 7 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    3. Published

      How to diagnose and classify idiopathic (genetic) generalized epilepsies

      Elmali, A. D., Auvin, S., Bast, T., Rubboli, Guido & Koutroumanidis, M., 2020, In: Epileptic Disorders. 22, 4, p. 399-418 20 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    4. Published

      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, Sterbova, K., Lassuthová, P., Vlckova, M., Lemke, J. R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K. M., Au, P. Y. B., Rho, J. M., Ho, A. W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Høi-Hansen, Christina Engel, Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., Braakman, H. M. H., van der Zwaag, B., Harder, A. V. E., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Le, N. M., Christensen, J., Grønborg, S., Scherer, S. W., Howe, J., Fazeli, W., Howell, K. B., 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., Vøllo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gélisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M. 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. M., Müller-Schlüter, K., Bassan, H., Borovikov, A., Nassogne, M. C., Destrée, A., Schoonjans, A. S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W. H., Olson, H. E., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M. P., Goldberg, E. M., Roser, T., Borggraefe, I., Brünger, T., May, P., Lal, D., Lederer, D., Rubboli, Guido, Heyne, H. O., Lesca, G., Hedrich, U. B. S., Benda, J., Gardella, E., Lerche, H. & Møller, R. S., 2022, In: Brain. 145, 9, p. 2991-3009 19 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    5. Published

      Genetic testing in adult epilepsy patients: A call to action for clinicians

      Rubboli, Guido, Møller, R. S. & Johannesen, K. M., 2020, In: Epilepsia. 61, 9, p. 2055-2056

      Research output: Contribution to journal › Letter › Research › peer-review

    6. Published

      Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy

      Amadori, E., Pellino, G., Bansal, L., Mazzone, S., Møller, R. S., Rubboli, Guido, Striano, P. & Russo, A., 2022, In: European Journal of Medical Genetics. 65, 4, 104450.

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

    7. Published

      Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

      Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S. & 30 others, Miranda, Maria J., Hempel, M., Brilstra, E., Knoers, N., Verbeek, N., Van Kempen, M., Braun, K. P., Mancini, G., Biskup, S., Hörtnagel, K., Döcker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Dilena, R., Fontana, E., Zara, F., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Deconinck, N., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B. & Møller, R. S., May 2017, In: Brain. 140, 5, p. 1316-1336

      Research output: Contribution to journal › Journal article › Research › peer-review

    8. GOSR2: a progressive myoclonus epilepsy gene

      Dibbens, L. M. & Rubboli, Guido, 2016, In: Epileptic Disorders. 18, Suppl. 2, p. S111-S114

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

    9. Published

      Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity

      Rychkov, G. Y., Shaukat, Z., Lim, C. X., Hussain, R., Roberts, B. J., Bonardi, C. M., Rubboli, Guido, Meaney, B. F., Whitney, R., Møller, R. S., Ricos, M. G. & Dibbens, L. M., 2022, In: International Journal of Molecular Sciences. 23, 23, 15133.

      Research output: Contribution to journal › Journal article › Research › peer-review

    10. Published

      From next-generation sequencing to targeted treatment of non-acquired epilepsies

      Møller, R. S., Hammer, T. B., Rubboli, Guido, Lemke, J. R. & Johannesen, K. M., Mar 2019, In: Expert Review of Molecular Diagnostics. 19, 3, p. 217-228 12 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

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    ID: 119733516