Guido Rubboli

Guido Rubboli

Clinical Professor

Member of:

    ORCID: 0000-0002-5309-2514

    Publication year:
    All
    1 - 25 out of 81Page size: 25
    Sort by: Title
    1. Published

      IRF2BPL as a novel causative gene for progressive myoclonus epilepsy

      Gardella, E., Michelucci, R., Christensen, H. M., Fenger, C. D., Reale, C., Riguzzi, P., Pasini, E., Albini-Riccioli, L., Papa, V., Foschini, M. P., Cenacchi, G., Furia, F., Marjanovic, D., Hammer, T. B., Møller, R. S. & Rubboli, Guido, 2023, In: Epilepsia. 64, 8, p. e170-e176 7 p.

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

    2. Published

      KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties

      Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., Sanders, S. J., Michaud, V., Legendre, M., Riva, A., Striano, P., Muhle, H., Pendziwiat, M., Lesca, G., Mangano, G. D., Nardello, R. & 6 others, Lemke, J. R., Møller, R. S., Soldovieri, M. V., Rubboli, Guido, Taglialatela, M. & KCNT2-study group, K. G., 2023, In: Annals of Neurology. 94, 2, p. 332-349

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

    3. Published

      PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)

      Cossu, A., Santos, J. L., Galati, G., Nikanorova, M., Costa, P., Mang, Y., Silahtaroglu, Asli, Rubboli, Guido, Tommerup, Niels, Dalla Bernardina, B., Møller, R. S., Cantalupo, G. & Gardella, E., 2023, In: Neurological Sciences. 44, 6, p. 2173-2176 4 p.

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

    4. Published

      A pragmatic algorithm to select appropriate antiseizure medications in patients with epilepsy

      Asadi-Pooya, A. A., Beniczky, S., Rubboli, Guido, Sperling, M. R., Rampp, S. & Perucca, E., 2020, In: Epilepsia. 61, 8, p. 1668-1677

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

    5. Published

      A web-based algorithm to rapidly classify seizures for the purpose of drug selection

      Beniczky, S., Asadi-Pooya, A. A., Perucca, E., Rubboli, Guido, Tartara, E., Meritam Larsen, P., Ebrahimi, S., Farzinmehr, S., Rampp, S. & Sperling, M. R., 2021, In: Epilepsia. 62, 10, p. 2474-2484

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

    6. Accepted/In press

      ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients

      Córdoba, N. M., Lince-Rivera, I., Gómez, J. L. R., Rubboli, Guido & De la Rosa, S. O., 2024, (Accepted/In press) In: Epileptic Disorders. 9 p.

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

    7. Published

      Absence-to-bilateral-tonic-clonic seizure A generalized seizure type

      Beniczky, S., Rubboli, Guido, Covanis, A. & Sperling, M. R., 2020, In: Neurology. 95, 14, p. E2009-E2015 7 p.

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

    8. Published

      Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations

      Pavlidis, E., Uldall, P., Gøbel Madsen, C., Nikanorova, M., Fabricius, M., Høgenhaven, H., Pisani, F., Møller, R. S., Gardella, E. & Rubboli, Guido, 2017, In: Epileptic Disorders. 19, 2, p. 226-230

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

    9. Published

      Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384

      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, 12, 104634.

      Research output: Contribution to journal › Comment/debate › Research › peer-review

    10. Published

      Automated EEG source imaging: A retrospective, blinded clinical validation study

      Baroumand, A. G., van Mierlo, P., Strobbe, G., Pinborg, Lars Hageman, Fabricius, M., Rubboli, Guido, Leffers, A. M., Uldall, P., Jespersen, B., Brennum, J., Henriksen, O. M. & Beniczky, S., 2018, In: Clinical Neurophysiology. 129, 11, p. 2403-2410 8 p.

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

    11. Published

      Automated ictal EEG source imaging: A retrospective, blinded clinical validation study

      Baroumand, A. G., Arbune, A. A., Strobbe, G., Keereman, V., Pinborg, Lars Hageman, Fabricius, M., Rubboli, Guido, Gøbel Madsen, C., Jespersen, B., Brennum, J., Mølby Henriksen, O., Mierlo, P. V. & Beniczky, S., 2022, In: Clinical Neurophysiology. 141, p. 119-125

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

    12. Published

      Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

      Wengert, E. R., Tronhjem, C. E., Wagnon, J. L., Johannesen, K. M., Petit, H., Krey, I., Saga, A. U., Panchal, P. S., Strohm, S. M., Lange, J., Kamphausen, S. B., Rubboli, Guido, Lemke, J. R., Gardella, E., Patel, M. K., Meisler, M. H. & Møller, R. S., 2019, In: Epilepsia. 60, 11, p. 2277-2285 9 p.

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

    13. Published

      Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

      Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., Gorman, K., King, M. D., Allen, N. M., Conroy, J., Ben Zeev, B., Tzadok, M., Korff, C., Dubois, F., Ramsey, K., Narayanan, V. & 23 others, Serratosa, J. M., Giraldez, B. G., Helbig, I., Marsh, E., O'Brien, M., Bergqvist, C. A., Binelli, A., Porter, B., Zaeyen, E., Horovitz, D. D., Wolff, M., Marjanovic, D., Caglayan, H. S., Arslan, M., Pena, S. D. J., Sisodiya, S. M., Balestrini, S., Syrbe, S., Veggiotti, P., Lemke, J. R., Møller, R. S., Lerche, H. & Rubboli, Guido, Sep 2017, In: Brain. 140, 9, p. 2337-2354

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

    14. Published

      Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

      RESCUE ESES study group, R. E. S. G., 2024, In: The Lancet Neurology. 23, 2, p. 147-156 10 p.

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

    15. Published

      Current standards of neuropsychological assessment in epilepsy surgery centers across Europe

      Vogt, V. L., Äikiä, M., del Barrio, A., Boon, P., Borbély, C., Bran, E., Braun, K., Carette, E., Clark, M., Cross, J. H., Dimova, P., Fabo, D., Foroglou, N., Francione, S., Gersamia, A., Gil-Nagel, A., Guekht, A., Harrison, S., Hecimovic, H., Heminghyt, E. & 37 others, Hirsch, E., Javurkova, A., Kälviäinen, R., Kavan, N., Kelemen, A., Kimiskidis, V. K., Kirschner, M., Kleitz, C., Kobulashvili, T., Kosmidis, M. H., Kurtish, S. Y., Lesourd, M., Ljunggren, S., Lossius, M. I., Malmgren, K., Mameniskiené, R., Martin-Sanfilippo, P., Marusic, P., Miatton, M., Özkara, Ç., Pelle, F., Rubboli, Guido, Rudebeck, S., Ryvlin, P., van Schooneveld, M., Schmid, E., Schmidt, P. M., Seeck, M., Steinhoff, B. J., Shavel-Jessop, S., Tarta-Arsene, O., Trinka, E., Viggedal, G., Wendling, A., Witt, J., Helmstaedter, C. & the E-PILEPSY consortium, T. E. C., Mar 2017, In: Epilepsia. 58, 3, p. 343-355 13 p.

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

    16. Published

      Deciphering the premature mortality in PIGA-CDG – An untold story

      Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, Lisbeth, Tümer, Asuman Zeynep, Rubboli, Guido & Møller, R. S., 2021, In: Epilepsy Research. 170, 106530.

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

    17. Published

      Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

      Bayat, A., Pendziwiat, M., Obersztyn, E., Goldenberg, P., Zacher, P., Döring, J. H., Syrbe, S., Begtrup, A., Borovikov, A., Sharkov, A., Karasińska, A., Giżewska, M., Mitchell, W., Morava, E., Møller, R. S. & Rubboli, Guido, 2021, In: Frontiers in Genetics. 12, 663643.

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

    18. Published

      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, Chae, J. H., Czapansky-Beilman, D., Reichert, S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., Nava, C., Keren, B., Doummar, D., Schaefer, E., Hopkins, S., Dubbs, H., Shaw, J. E., Pisani, L., Myers, C. T., Tang, S., Tang, S., Pal, D. K., Millichap, J. J., Carvill, G. L., Helbig, K. L., Mecarelli, O., Striano, P., Helbig, I., Rubboli, Guido, Mefford, H. C. & Møller, R. S., Feb 2018, In: Epilepsia. 59, 2, p. 389-402 14 p.

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

    19. Published

      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, Greiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Asuman Zeynep & Rubboli, Guido, 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.

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

    20. Published

      Diagnostic added value of electrical source imaging in presurgical evaluation of patients with epilepsy: A prospective study

      Foged, M. T., Martens, T., Pinborg, Lars Hageman, Hamrouni, Nizar, Litman, M., Rubboli, Guido, Leffers, A., Ryvlin, Philippe, Jespersen, B., Paulson, Olaf B., Fabricius, M. & Beniczky, S., 2020, In: Clinical Neurophysiology. 131, 1, p. 324-329

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

    21. Published

      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

    22. Published

      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

    23. Published

      Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study

      Duez, L., Tankisi, H., Hansen, P. O., Sidenius, P., Sabers, A., Pinborg, Lars Hageman, Fabricius, M., Rásonyi, G., Rubboli, Guido, Pedersen, B., Leffers, A., Uldall, P., Jespersen, B., Brennum, J., Henriksen, O. M., Fuglsang-Frederiksen, A. & Beniczky, S., 2019, In: Neurology. 92, 6, p. e576-e586

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

    24. Published

      Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv-specific Pro-Val-Pro motif: phenotypic description and remarkable electroclinical response to ACTH

      Russo, A., Gobbi, G., Pini, A., M⊘ller, R. S. & Rubboli, Guido, 2020, In: Epileptic Disorders. 22, 6, p. 802-806 5 p.

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

    25. Published

      Encephalopathy related to status epilepticus during slow sleep (ESES). Pathophysiological insights and nosological considerations

      Rubboli, Guido, Gardella, E., Cantalupo, G. & Alberto Tassinari, C., 2023, In: Epilepsy and Behavior. 140, 109105.

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

    Previous 1 2 3 4 Next

    ID: 119733516