Guido Rubboli
Clinical Professor
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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
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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
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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
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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. 1668-1677Research output: Contribution to journal › Journal article › Research › peer-review
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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. 2474-2484Research output: Contribution to journal › Journal article › Research › peer-review
- 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
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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
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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. 226-230Research output: Contribution to journal › Journal article › Research › peer-review
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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 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
- 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
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
- 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, , Sep 2017, In: Brain. 140, 9, p. 2337-2354Research 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
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, , Mar 2017, In: Epilepsia. 58, 3, p. 343-355 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
- 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
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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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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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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. 324-329Research 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
- 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
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-e586Research output: Contribution to journal › Journal article › Research › peer-review
- 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
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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
Epidemiology and outcome of idiopathic generalized epilepsy in adults
Gesche, J., Christensen, J., Hjalgrim, H., Rubboli, Guido & Beier, C. P., 2020, In: European Journal of Neurology. 27, 4, p. 676-684Research 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
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Epilepsy surgery of “low grade epilepsy associated neuroepithelial tumors”: A retrospective nationwide Italian study
Giulioni, M., Marucci, G., Pelliccia, V., Gozzo, F., Barba, C., Didato, G., Villani, F., Di Gennaro, G., Quarato, P. P., Esposito, V., Consales, A., Martinoni, M., Vornetti, G., Zenesini, C., Efisio Marras, C., Specchio, N., De Palma, L., Rocchi, R., Giordano, F., Tringali, G. & 9 others, , Nov 2017, In: Epilepsia. 58, 11, p. 1832-1841 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy
Bayat, A., Bayat, M., Rubboli, Guido & Møller, R. S., 2021, In: Genes. 12, 7, 1051.Research output: Contribution to journal › Review › Research › peer-review
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Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)
Bonardi, C. M., Mignot, C., Serratosa, J. M., Giraldez, B. G., Moretti, R., Rudolf, G., Reale, C., Gellert, P. M., Johannesen, K. M., Lesca, G., Tassinari, C. A., Gardella, E., Møller, R. S. & Rubboli, Guido, 2020, In: Clinical Neurophysiology. 131, 5, p. 1030-1039Research 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
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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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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
GOSR2: a progressive myoclonus epilepsy gene
Dibbens, L. M. & Rubboli, Guido, 2016, In: Epileptic Disorders. 18, Suppl. 2, p. S111-S114Research output: Contribution to journal › Review › Research › peer-review
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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, , May 2017, In: Brain. 140, 5, p. 1316-1336Research 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
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. 2055-2056Research output: Contribution to journal › Letter › 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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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
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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
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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
- 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
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Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study
Barba, C., Specchio, N., Guerrini, R., Tassi, L., De Masi, S., Cardinale, F., Pellacani, S., De Palma, L., Battaglia, D., Tamburrini, G., Didato, G., Freri, E., Consales, A., Nozza, P., Zamponi, N., Cesaroni, E., Di Gennaro, G., Esposito, V., Giulioni, M., Tinuper, P. & 7 others, , Oct 2017, In: Epilepsy and Behavior. 75, p. 151-157Research 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
- Published
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
Bonardi, C. M., Heyne, H. O., Fiannacca, M., Fitzgerald, M. P., Gardella, E., Gunning, B., Olofsson, K., Lesca, G., Verbeek, N., Stamberger, H., Striano, P., Zara, F., Mancardi, M. M., Nava, C., Syrbe, S., Buono, S., Baulac, S., Coppola, A., Weckhuysen, S., Schoonjans, A. S. & 28 others, , 2021, In: Brain. 144, 12, p. 3635-3650 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
Looking at the muscle to find out what is happening in the brain
Rubboli, Guido & Krämer, G., 2016, In: Clinical Neurophysiology. 127, 8, p. 2898-2899 2 p.Research output: Contribution to journal › Editorial › Research › peer-review
- Published
Magnetic evoked potential polyphasia in idiopathic/genetic generalized epilepsy: An endophenotype not associated with treatment response
Gesche, J., Wüstenhagen, S., Krøigård, T., Rubboli, Guido & Beier, C. P., 2021, In: Clinical Neurophysiology. 132, 7, p. 1499-1504 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Management of Antiepileptic Treatment After Epilepsy Surgery: Practices and Problems
Rubboli, Guido, Sabers, A., Uldall, P. & Malmgren, K., 2017, In: Current Pharmaceutical Design. 23, 37, p. 5749-5759Research output: Contribution to journal › Journal article › Research › peer-review
- Published
MicroRNA profiles in hippocampal granule cells and plasma of rats with pilocarpine-induced epilepsy--comparison with human epileptic samples
Roncon, P., Soukupovà, M., Binaschi, A., Falcicchia, C., Zucchini, S., Ferracin, M., Langley, S. R., Petretto, E., Johnson, M. R., Marucci, G., Michelucci, R., Rubboli, Guido & Simonato, M., 2015, In: Scientific Reports. 5, 15 p., 14143.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
Møller, R. S., Wuttke, T. V., Helbig, I., Marini, C., Johannesen, K. M., Brilstra, E. H., Vaher, U., Borggraefe, I., Talvik, I., Talvik, T., Kluger, G., Francois, L. L., Lesca, G., de Bellescize, J., Blichfeldt, S., Chatron, N., Holert, N., Jacobs, J., Swinkels, M., Betzler, C. & 22 others, , 31 Jan 2017, In: Neurology. 88, 5, p. 483-492 10 p.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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Standardized computer-based organized reporting of EEG: SCORE - Second version
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Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study
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