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  • 2022

    Assessing the landscape of STXBP1-related disorders in 534 individuals

    Xian, J., Parthasarathy, S., Ruggiero, S. M., Balagura, G., Fitch, E., Helbig, K., Gan, J., Ganesan, S., Kaufman, M. C., Ellis, C. A., Lewis-Smith, D., Galer, P., Cunningham, K., O'brien, M., Cosico, M., Baker, K., Darling, A., Veiga De Goes, F., El Achkar, C. M., Doering, J. H., & 34 othersFuria, F., Garciá-Cazorla, Á., Gardella, E., Geertjens, L., Klein, C., Kolesnik-Taylor, A., Lammertse, H., Lee, J., Mackie, A., Misra-Isrie, M., Olson, H., Sexton, E., Sheidley, B., Smith, L., Sotero, L., Stamberger, H., Syrbe, S., Thalwitzer, K. M., Van Berkel, A., Van Haelst, M., Yuskaitis, C., Weckhuysen, S., Prosser, B., Son Rigby, C., Demarest, S., Pierce, S., Zhang, Y., Møller, R. S., Bruining, H., Poduri, A., Zara, F., Verhage, M., Striano, P. & Helbig, I., May 2022, In: Brain. 145, 5, p. 1668-1683

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  • De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity

    Johannesen, K. M., Gardella, E., Ahring, P. K. & Møller, R. S., Oct 2022, In: European Journal of Medical Genetics. 65, 10, 5 p., 104577.

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  • EEG normal variants: A prospective study using the SCORE system

    Wüstenhagen, S., Terney, D., Gardella, E., Meritam Larsen, P., Rømer, C., Aurlien, H. & Beniczky, S., Jul 2022, In: Clinical Neurophysiology Practice. 7, p. 183-200

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  • Effect of fenfluramine on seizures and comorbidities in SCN8A-developmental and epileptic encephalopathy: A case series

    Aledo-Serrano, Á., Cabal-Paz, B., Gardella, E., Gómez-Porro, P., Martínez-Múgica, O., Beltrán-Corbellini, A., Toledano, R., García-Morales, I. & Gil-Nagel, A., 8. Jul 2022, (E-pub ahead of print) In: Epilepsia Open.

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  • Epilepsy in neurodegenerative diseases

    Neri, S., Mastroianni, G., Gardella, E., Aguglia, U. & Rubboli, G., Apr 2022, In: Epileptic Disorders. 24, 2, p. 249-273

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  • Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

    Absalom, N. L., Liao, V. W. Y., Johannesen, K. M. H., Gardella, E., Jacobs, J., Lesca, G., Gokce-Samar, Z., Arzimanoglou, A., Zeidler, S., Striano, P., Meyer, P., Benkel-Herrenbrueck, I., Mero, I. L., Rummel, J., Chebib, M., Møller, R. S. & Ahring, P. K., 5. Apr 2022, In: Nature Communications. 13, 15 p., 1822.

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  • Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

    Ahring, P. K., Liao, V. W. Y., Gardella, E., Johannesen, K. M., Krey, I., Selmer, K. K., Stadheim, B. F., Davis, H., Peinhardt, C., Koko, M., Coorg, R. K., Syrbe, S., Bertsche, A., Santiago-Sim, T., Diemer, T., Fenger, C. D., Platzer, K., Eichler, E. E., Lerche, H., Lemke, J. R., & 2 othersChebib, M. & Møller, R. S., 24. May 2022, In: Brain : a journal of neurology. 145, 4, p. 1299-1309

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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., & 108 othersSterbova, K., Lassuthová, P., Vlckova, M., Lemke, J. R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K. M., Billie Au, P. Y., Rho, J. M., Ho, A. W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C. E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., van der Zwaag, B., Harder, A. V. E., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Minh Le, N., 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, G., Heyne, H. O., Lesca, G., Hedrich, U. B. S., Benda, J., Gardella, E., Lerche, H. & Møller, R. S., Sep 2022, In: Brain : a journal of neurology. 145, 9, p. 2991-3009

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  • Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood

    Stamberger, H., Crosiers, D., Balagura, G., Bonardi, C. M., Basu, A., Cantalupo, G., Chiesa, V., Christensen, J., Dalla Bernardina, B., Ellis, C. A., Furia, F., Gardiner, F., Giron, C., Guerrini, R., Klein, K. M., Korff, C., Krijtova, H., Leffner, M., Lerche, H., Lesca, G., & 21 othersLewis-Smith, D., Marini, C., Marjanovic, D., Mazzola, L., McKeown Ruggiero, S., Mochel, F., Ramond, F., Reif, P. S., Richard-Mornas, A., Rosenow, F., Schropp, C., Thomas, R. H., Vignoli, A., Weber, Y., Palmer, E., Helbig, I., Scheffer, I. E., Striano, P., Møller, R. S., Gardella, E. & Weckhuysen, S., 19. Jul 2022, In: Neurology. 99, 3, p. E221-E233 14 p.

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  • Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study

    Bayat, A., Aledo-Serrano, A., Gil-Nagel, A., Korff, C. M., Thomas, A., Boßelmann, C., Weber, Y., Gardella, E., Lund, AM., de Sain-van der Velden, M. G. M. & Møller, R. S., Jun 2022, In: Developmental Medicine and Child Neurology. 64, 6, p. 789-798

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  • Sex-specific disease modifiers in juvenile myoclonic epilepsy

    Shakeshaft, A., Panjwani, N., Collingwood, A., Crudgington, H., Hall, A., Andrade, D. M., Beier, C. P., Fong, C. Y., Gardella, E., Gesche, J., Greenberg, D. A., Hamandi, K., Koht, J., Lim, K. S., Møller, R. S., Ng, C. C., Orsini, A., Rees, M. I., Rubboli, G., Selmer, K. K., & 7 othersStriano, P., Syvertsen, M., Thomas, R. H., Zarubova, J., Richardson, M. P., Strug, L. J. & Pal, D. K., 21. Feb 2022, In: Scientific Reports. 12, 2785.

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  • Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

    Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Pérez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E. H., Verbeek, N. E., & 27 othersvan Kempen, M., Fazeli, W., Striano, P., Zara, F., Visser, G., Braakman, H. M. H., Haeusler, M., Elbracht, M., Vaher, U., Smol, T., Lemke, J. R., Platzer, K., Kennedy, J., Klein, K. M., Au, P. Y. B., Smyth, K., Kaplan, J., Thomas, M., Dewenter, M. K., Dinopoulos, A., Campbell, A. J., Lal, D., Lederer, D., Liao, V. W. Y., Ahring, P. K., Møller, R. S. & Gardella, E., Mar 2022, In: Genetics in Medicine. 24, 3, p. 681-693

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  • The Relationship Between Valproate and Lamotrigine/Levetiracetam Use and Prognosis in Patients With Epilepsy and Heart Failure: A Danish Register-Based Study

    Liang, D., Gardella, E., Kragholm, K., Polcwiartek, C. & Sessa, M., Apr 2022, In: Journal of Cardiac Failure. 28, 4, p. 630-638

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  • Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome

    Bonardi, C. M., Bayat, A., Madsen, C. G., Hammer, T. B., Reale, C., Gardella, E., Marjanovic, D., Beniczky, S., Møller, R. S. & Rubboli, G., 1. Jun 2022, In: Epileptic disorders : international epilepsy journal with videotape. 24, 3, p. 577-582

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  • 2021

    Cognitive tasks as provocation methods in routine EEG: a multicentre field study

    Braga, P., Mameniskiené, R., Guaranha, M., Zeissig, E. V., Samaitienė, R., Özcelik, E. U., Bogacz, A., Lin, K., Gardella, E., Yacubian, E. M., Baykan, B., Legnani, M., Beniczky, S., Navickiene, E., Jasionis, A., Lunardi, M., Falco, G. & Wolf, P., Feb 2021, In: Epileptic Disorders. 23, 1, p. 123-132

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  • Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

    Raviglione, F., Douzgou, S., Scala, M., Mingarelli, A., D'Arrigo, S., Freri, E., Darra, F., Giglio, S., Bonaglia, M. C., Pantaleoni, C., Mastrangelo, M., Epifanio, R., Elia, M., Saletti, V., Morlino, S., Vari, M. S., De Liso, P., Pavaine, J., Spaccini, L., Cattaneo, E., & 26 othersGardella, E., Møller, R. S., Marchese, F., Colonna, C., Gandioli, C., Gobbi, G., Ram, D., Palumbo, O., Carella, M., Germano, M., Tonduti, D., De Angelis, D., Caputo, D., Bergonzini, P., Novara, F., Zuffardi, O., Verrotti, A., Orsini, A., Bonuccelli, A., De Muto, M. C., Trivisano, M., Vigevano, F., Granata, T., Bernardina, B. D., Tranchina, A. & Striano, P., May 2021, In: Seizure. 88, p. 60-72

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  • 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 othersCeulemans, B., Sarret, C., Baumgartner, T., Muhle, H., des Portes, V., Toulouse, J., Nougues, M-C., Rossi, M., Demarquay, G., Ville, D., Hirsch, E., Maurey, H., Willems, M., de Bellescize, J., Altuzarra, C. D., Villeneuve, N., Bartolomei, F., Picard, F., Hornemann, F., Koolen, D. A., Kroes, H. Y., Reale, C., Fenger, C. D., Tan, W-H., Dibbens, L., Bearden, D. R., Møller, R. S. & Rubboli, G., 8. Dec 2021, In: Brain : a journal of neurology. 144, 12, p. 3635-3650

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  • Modulation in time of the interictal spiking pattern related to epileptic seizures

    Arbune, A. A., Meritam Larsen, P., Wüstenhagen, S., Terney, D., Gardella, E. & Beniczky, S., May 2021, In: Clinical Neurophysiology. 132, 5, p. 1083-1088

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  • NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., Afawi, Z., Almanza Fuerte, E. P., Andrade, D. M., Balcik, Y., Ben Zeev, B., Bennett, M. F., Berkovic, S. F., Isidor, B., Bouman, A., Brilstra, E., & 65 othersBusk, Ø. L., Cairns, A., Caumes, R., Chatron, N., Dale, R. C., de Geus, C., Edery, P., Gill, D., Granild-Jensen, J. B., Gunderson, L., Gunning, B., Heimer, G., Helle, J. R., Hildebrand, M. S., Hollingsworth, G., Kharytonov, V., Klee, E. W., Koeleman, B. P. C., Koolen, D. A., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, R. J., Mackay, M. T., Macke, E. L., McEntagart, M., Mohammad, S. S., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, A. M., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, P. S., Rosenow, F., Rossi, M., Sadleir, L. G., Sadoway, T., Schelhaas, H. J., Schneider, A. L., Shah, K., Shalev, R., Sisodiya, S. M., Smol, T., Stumpel, C. T. R. M., Stuurman, K., Symonds, J. D., Mau-Them, F. T., Verbeek, N., Verhoeven, J. S., Wallace, G., Yosovich, K., Zarate, Y. A., Zerem, A., Zuberi, S. M., Guerrini, R., Mefford, H. C., Patel, C., Zhang, Y. H., Møller, R. S. & Scheffer, I. E., Feb 2021, In: Genetics in Medicine. 23, 2, p. 363-373

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  • Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

    Glinton, K. E., Hurst, A. C. E., Bowling, K. M., Cristian, I., Haynes, D., Adstamongkonkul, D., Schnappauf, O., Beck, D. B., Brewer, C., Parikh, A. S., Shinde, D. N., Donaldson, A., Brautbar, A., Koene, S., van Haeringen, A., Piton, A., Capri, Y., Furlan, M., Gardella, E., Møller, R. S., & 28 othersvan de Beek, I., Zuurbier, L., Lakeman, P., Bayat, A., Martinez, J., Signer, R., Torring, P. M., Engelund, M. B., Gripp, K. W., Amlie-Wolf, L., Henderson, L. B., Midro, A. T., Tarasów, E., Stasiewicz-Jarocka, B., Moskal-Jasinska, D., Vos, P., Boschann, F., Stoltenburg, C., Puk, O., Mero, I. L., Lossius, K., Mignot, C., Keren, B., Acosta Guio, J. C., Briceño, I., Gomez, A., Yang, Y. & Stankiewicz, P., May 2021, In: American Journal of Medical Genetics, Part A. 185, 5, p. 1366-1378

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  • Photoparoxysmal response and its characteristics in a large EEG database using the SCORE system

    Meritam Larsen, P., Wüstenhagen, S., Terney, D., Gardella, E., Alving, J., Aurlien, H. & Beniczky, S., Feb 2021, In: Clinical Neurophysiology. 132, 2, p. 365-371

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  • 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., & 31 othersEsser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. B. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Møller, R. S., Rubboli, G. & PURA study group, 15. Dec 2021, In: Neurology: Genetics. 7, 6, 15 p., e613.

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  • STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG

    Houtman, S. J., Lammertse, H. C. A., van Berkel, A. A., Balagura, G., Gardella, E., Ramautar, J. R., Reale, C., Møller, R. S., Zara, F., Striano, P., Misra-Isrie, M., van Haelst, M. M., Engelen, M., van Zuijen, T. L., Mansvelder, H. D., Verhage, M., Bruining, H. & Linkenkaer-Hansen, K., 23. Dec 2021, In: Frontiers in Physiology. 12, 775172.

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  • 2020

    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, G., May 2020, In: Clinical Neurophysiology. 131, 5, p. 1030-1039

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  • Lessons learned from 40 novel PIGA patients and a review of the literature

    Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Stefan Barakat, T., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A-M., Hansen, L., & 34 othersJezela-Stanek, A., Karsenty, C., Kievit, A., Kooy, F. R., Korff, C. M., Kragh Hansen, J., Larsen, M., Layet, V., Lesca, G., McBride, K. L., Meuwissen, M., Mignot, C., Montomoli, M., Moore, H., Naudion, S., Nava, C., Nougues, M-C., Parrini, E., Pastore, M., Schelhaas, J. H., Skinner, S., Szczałuba, K., Thomas, A., Thomassen, M., Tranebjaerg, L., van Slegtenhorst, M., Wolfe, L. A., Lal, D., Gardella, E., Bomme Ousager, L., Brünger, T., Helbig, I., Krawitz, P. & Møller, R. S., Jun 2020, In: Epilepsia. 61, 6, p. 1142-1155

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  • Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

    Zilmer, M., Edmondson, A. C., Khetarpal, S. A., Alesi, V., Zaki, M. S., Rostasy, K., Madsen, C. G., Lepri, F. R., Sinibaldi, L., Cusmai, R., Novelli, A., Issa, M. Y., Fenger, C. D., Jamra, R. A., Reutter, H., Briuglia, S., Agolini, E., Hansen, L., Petäjä-Repo, U. E., Hintze, J., & 12 othersRaymond, K. M., Liedtke, K., Stanley, V., Musaev, D., Gleeson, J. G., Vitali, C., O’Brien, W. T., Gardella, E., Rubboli, G., Rader, D. J., Schjoldager, K. T. & Møller, R. S., 15. Apr 2020, In: Brain. 143, 4, p. 1114-1126

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  • Recent advances in treatment of epilepsy-related sodium channelopathies

    Musto, E., Gardella, E. & Møller, R. S., Jan 2020, In: European Journal of Paediatric Neurology. 24, p. 123-128

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  • 2019

    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, G., Lemke, J. R., Gardella, E., Patel, M. K., Meisler, M. H. & Møller, R. S., Nov 2019, In: Epilepsia. 60, 11, p. 2277-2285

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  • Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

    Johannesen, K. M., Mitter, D., Janowski, R., Roth, C., Toulouse, J., Poulat, A-L., Ville, D. M., Chatron, N., Brilstra, E., Geleijns, K., Born, A. P., McLean, S., Nugent, K., Baynam, G., Poulton, C., Dreyer, L., Gration, D., Schulz, S., Dieckmann, A., Helbig, K. L., & 18 othersMerkenschlager, A., Jamra, R., Finck, A., Gardella, E., Hjalgrim, H., Mirzaa, G., Brancati, F., Bierhals, T., Denecke, J., Hempel, M., Lemke, J. R., Rubboli, G., Muschke, P., Guerrini, R., Vetro, A., Niessing, D., Lesca, G. & Møller, R. S., Dec 2019, In: Neurology: Genetics. 5, 6, p. e373

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  • EEG features in Encephalopathy related to Status Epilepticus during slow Sleep

    Gardella, E., Cantalupo, G., Larsson, P. G., Fontana, E., Bernardina, B. D., Rubboli, G. & Darra, F., Jun 2019, In: Epileptic disorders : international epilepsy journal with videotape. 21, S1, p. S22-S30

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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, G. & Gardella, E., 1. Aug 2019, In: Epilepsy and Behavior. 97, p. 244-252

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  • IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M-L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A-L., Brunga, L., Ceulemans, B., Coubes, C., & 66 othersCristancho, A. G., Cunningham, F., Dehouck, M-B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M-L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J-M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., Apr 2019, In: Genetics in Medicine. 21, 4, p. 837-849

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  • Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

    Rubboli, G., Plazzi, G., Picard, F., Nobili, L., Hirsch, E., Chelly, J., Prayson, R. A., Boutonnat, J., Bramerio, M., Kahane, P., Dibbens, L. M., Gardella, E., Baulac, S. & Møller, R. S., Feb 2019, In: Annals of Clinical and Translational Neurology. 6, 2, p. 386-391

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  • Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

    Liu, Y., Schubert, J., Sonnenberg, L., Helbig, K. L., Hoei-Hansen, C. E., Koko, M., Rannap, M., Lauxmann, S., Huq, M., Schneider, M. C., Johannesen, K. M., Kurlemann, G., Gardella, E., Becker, F., Weber, Y. G., Benda, J., Møller, R. S. & Lerche, H., 1. Feb 2019, In: Brain. 142, 2, p. 376-390

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  • Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes

    Gardella, E. & Møller, R. S., 1. Dec 2019, In: Epilepsia. 60, S3, p. S77-S85

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  • PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

    Bayat, A., Knaus, A., Juul, A. W., Dukic, D., Gardella, E., Charzewska, A., Clement, E., Hjalgrim, H., Hoffman-Zacharska, D., Horn, D., Horton, R., Hurst, J. A., Josifova, D., Larsen, L. H. G., Lascelles, K., Obersztyn, E., Pagnamenta, A., Pal, D. K., Pendziwiat, M., Ryten, M., & 8 othersTaylor, J., Vogt, J., Weber, Y., Krawitz, P. M., Helbig, I., Kini, U., Møller, R. S. & the DDD Study Group, Oct 2019, In: Genetics in Medicine. 21, 10, p. 2216-2223

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  • Quantitative EEG analysis in Encephalopathy related to Status Epilepticus during slow Sleep

    Cantalupo, G., Pavlidis, E., Beniczky, S., Avanzini, P., Gardella, E. & Larsson, P. G., Jun 2019, In: Epileptic disorders : international epilepsy journal with videotape. 21, S1, p. S31-S40

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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 othersRumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S. E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, G. & Møller, R. S., May 2019, In: Epilepsia. 60, 5, p. 830-844

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  • 2018

    Added clinical value of the inferior temporal EEG electrode chain

    Bach Justesen, A., Eskelund Johansen, A. B., Martinussen, N. I., Wasserman, D., Terney, D., Meritam, P., Gardella, E. & Beniczky, S., 2018, In: Clinical Neurophysiology. 129, 1, p. 291-295

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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., & 30 othersChae, 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., Rubboli, G. & Møller, R. S., 2018, In: Epilepsia. 59, 2, p. 389-402

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  • Diagnostic yield of standard-wake and sleep EEG recordings

    Meritam, P., Gardella, E., Alving, J., Terney, D., Cacic Hribljan, M. & Beniczky, S., Apr 2018, In: Clinical Neurophysiology. 129, 4, p. 713-716

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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, G., Jul 2018, In: Epilepsy Research. 143, p. 79-81

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  • Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

    Zagaglia, S., Selch, C., Nisevic, J. R., Mei, D., Michalak, Z., Hernandez-Hernandez, L., Krithika, S., Vezyroglou, K., Varadkar, S. M., Pepler, A., Biskup, S., Leão, M., Gärtner, J., Merkenschlager, A., Jaksch, M., Møller, R. S., Gardella, E., Kristiansen, B. S., Hansen, L. K., Vari, M. S., & 29 othersHelbig, K. L., Desai, S., Smith-Hicks, C. L., Hino-Fukuyo, N., Talvik, T., Laugesaar, R., Ilves, P., Õunap, K., Körber, I., Hartlieb, T., Kudernatsch, M., Winkler, P., Schimmel, M., Hasse, A., Knuf, M., Heinemeyer, J., Makowski, C., Ghedia, S., Subramanian, G. M., Striano, P., Thomas, R. H., Micallef, C., Thom, M., Werring, D. J., Kluger, G. J., Cross, J. H., Guerrini, R., Balestrini, S. & Sisodiya, S. M., 27. Nov 2018, In: Neurology. 91, 22, p. e2078-e2088

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  • Standardisierter Computer-basiert-organisierter Report des EEG (SCORE): Eine strukturierende Form der EEG-Befundung

    Translated title of the contribution: Standardisied Computer-based Organised Reporting of EEG (SCORE) - A structuring method to report EEG-findingsSchmitt, F. C., Aurlien, H., Brogger, J. C., Hirsch, L. J., Schomer, D. L., Trinka, E., Pressler, R. M., Wennberg, R., Visser, G. H., Eisermann, M., Diehl, B., Lesser, R. P., Kaplan, P. W., The Tich, S. N., Lee, J. W., Martins-Da-Silva, A., Stefan, H., Neufeld, M., Rubboli, G., Fabricius, M., & 19 othersGardella, E., Terney, D., Meritam, P., Eichele, T., Asano, E., Cox, F., Van Emde Boas, W., Mameniskiene, R., Marusic, P., Zárubová, J., Rosén, I., Fuglsang-Frederiksen, A., Ikeda, A., Macdonald, D. B., Terada, K., Ugawa, Y., Zhou, D., Herman, S. T. & Beniczky, S., 2018, In: Klinische Neurophysiologie. 49, 2, p. e1-e18

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  • The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

    Chatron, N., Møller, R. S., Champaigne, N. L., Schneider, A. L., Kuechler, A., Labalme, A., Simonet, T., Baggett, L., Bardel, C., Kamsteeg, E. J., Pfundt, R., Romano, C., Aronsson, J., Alberti, A., Vinci, M., Miranda, M. J., Lacroix, A., Marjanovic, D., des Portes, V., Edery, P., & 7 othersWieczorek, D., Gardella, E., Scheffer, I. E., Mefford, H., Sanlaville, D., Carvill, G. L. & Lesca, G., 2018, In: Annals of Neurology. 83, 5, p. 926-934

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  • The phenotype of SCN8A developmental and epileptic encephalopathy

    Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., Darra, F., Siliquini, S., Bölsterli, B. K., Masnada, S., Pichiecchio, A., Johannesen, K. M., Jepsen, B., Fontana, E., Anibaldi, G., Russo, S., Cogliati, F., Montomoli, M., Specchio, N., Rubboli, G., & 8 othersVeggiotti, P., Beniczky, S., Wolff, M., Helbig, I., Vigevano, F., Scheffer, I. E., Guerrini, R. & Møller, R. S., 18. Sep 2018, In: Neurology. 91, 12, p. e1112-e1124

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  • 2017

    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, G., 2017, In: Epileptic Disorders. 19, 2, p. 226-230

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  • 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 othersSerratosa, 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, G., 2017, In: Brain. 140, 9, p. 2337-2354

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  • Do patients need to stay in bed all day in the Epilepsy Monitoring Unit? Safety data from a non-restrictive setting

    Craciun, L., Alving, J., Gardella, E., Terney, D., Meritam, P., Cacic Hribljan, M. & Beniczky, S., 2017, In: Seizure. 49, p. 13-16

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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., & 65 othersMiranda, M. J., Hempel, M., Brilstra, E., Knoers, N. V., Verbeek, N. E., van Kempen, M. J. A., Braun, K. P. J., 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., Finetti, C., Brückner, R., Pietz, J., Golla, G., Jillella, D., Linnet, K. M., Charles, P., Moog, U., Õiglane-Shlik, E., Mantovani, J. F., Park, K., Deprez, M., Lederer, D., Mary, S., Scalais, E., Selim, L., Van Coster, R., Lagae, L., Nikanorova, M., Hjalgrim, H., Korenke, G. C., Trivisano, M., Specchio, N., Ceulemans, B., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., De Jonghe, P., Weckhuysen, S., Lemke, J. R., Krägeloh-Mann, I., Helbig, I., Kluger, G., Lerche, H. & Møller, R. S., 2017, In: Brain. 140, 5, p. 1316–1336

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