Guido Rubboli
Clinical Professor
- 2024
- 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
- 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
- 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, , 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Prediction tools and risk stratification in epilepsy surgery
Hadady, L., Sperling, M. R., Alcala-Zermeno, J. L., French, J. A., Dugan, P., Jehi, L., Fabó, D., Klivényi, P., Rubboli, Guido & Beniczky, S., 2024, In: Epilepsia. 65, 2, p. 414-421 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2023
- 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
- 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, , 2023, In: Annals of Neurology. 94, 2, p. 332-349Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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
- Published
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
- Published
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
Rossi, A., Blok, L. S., Neuser, S., Klöckner, C., Platzer, K., Faivre, L. O., Weigand, H., Dentici, M. L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, L., Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M., Lauridsen, M. F. & 23 others, , 2023, In: Clinical Genetics. 104, 2, p. 186-197Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Postprocessing of MRIs Using FreeSurfer in Epilepsy Surgery Patients Provides an Excellent Imaging Marker of Hippocampal Sclerosis but Fails to Separate Subtypes
Kloster, A. G., Opheim, G., Alfstad, K., Larsen, K. B., Niehusmann, P., Holm, E., Fink-Jensen, P., Lund, Eva Løbner, Jespersen, B., Ivanovic, J., Rubboli, Guido, Madsen, C. G., Marthinsen, P. B., Ganz, Melanie, Lossius, M. & Pinborg, Lars Hageman, 2023, In: Acta Neurologica Scandinavica. 2023, 10 p., 2366355.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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
- Published
Transcranial magnetic stimulation in progressive myoclonus epilepsy: A promising tool for “deep phenotyping” in genetic epilepsies
Rubboli, Guido & Valzania, F., 2023, In: Epilepsia. 64, 9, p. 2534-2535 2 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
- Published
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications
BIOJUME Consortium, B. C., 2023, In: Brain Communications. 5, 3, 18 p., fcad182.Research output: Contribution to journal › Review › Research › peer-review
- Published
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant
Gjerulfsen, C. E., Mieszczanek, T. S., Johannesen, K. M., Liao, V. W. Y., Chebib, M., Nørby, H. A. J., Gardella, E., Rubboli, Guido, Ahring, P. & Møller, R. S., 2023, In: Annals of Clinical and Translational Neurology. 10, 8, p. 1493-1498 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2022
- 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
- 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. 119-125Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Epilepsy in neurodegenerative diseases
Neri, S., Mastroianni, G., Gardella, E., Aguglia, U. & Rubboli, Guido, 2022, In: Epileptic Disorders. 24, 2, p. 249-273 25 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Expanding the phenotype of PURA-related developmental epileptic encephalopathy
Rubboli, Guido & Johannesen, K. M., 2022, In: Epileptic Disorders. 24, 2, p. 445-446 2 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
- 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
- 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
- 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, , 2022, In: Brain. 145, 9, p. 2991-3009 19 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies - a Study in a Tertiary Epilepsy Center
Bayat, A., Fenger, C. D., Techlo, T. R., Højte, A. F., Nørgaard, I., Hansen, Thomas Folkmann, Rubboli, Guido, Møller, R. S. & group, D. C. C. R. S., 2022, In: Neurotherapeutics. 19, p. 1353–1367Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Pseudoresistance in idiopathic/genetic generalized epilepsies – Definitions, risk factors, and outcome
Gesche, J., Cornwall, C. D., Delcomyn, L., Rubboli, Guido & Beier, C. P., 2022, In: Epilepsy and Behavior. 130, 108633.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 119733516
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603
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The landscape of epilepsy-related GATOR1 variants
Research output: Contribution to journal › Journal article › Research › peer-review
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348
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Standardized computer-based organized reporting of EEG: SCORE - Second version
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
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
Published