Scientific publications
Find here scientific publications written by EpiCARE members and/or ILAE reports
On this page, we list scientific publications written with the contribution of EpiCARE members (affiliation to ERN EpiCARE or acknowledgement have to be mentioned), related to the diagnosis and treatment of rare and complex epilepsies.
They are classified in 3 categories:
Open Access publication can be downloaded directly. Scroll down to find each of the 3 categories and do not hesitate to use the search box when looking for a specific paper or author.
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| Diagnosis, Treatment and General Epileptology publications |
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Ferreira J, Peixoto R, Lopes L, Beniczky S, Ryvlin P, Conde C, Claro J. User involvement in the design and development of medical devices in epilepsy: A systematic review.EpilepsiaOpen. August 2024. DOI: 10.1002/epi4.13038. Find the publication here |
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Specchio N, Auvin S. Pharmacotherapeutic strategies for drug-resistant epilepsy in children.Epilepsy & Behavior 161 (2024) 110139. Find the publication here |
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Pegoraro V, Viellevoye R, Malfilatre G, Dilena R, Proietti J, Mauro I, Zardini C, Dzietko M, Lacan L, Desnou B, Cordelli D, Campi F, Reis M, Fumagalli M, Nguyen S, Felderhoff U, Ventura G, Sartori S, Benders M, Pittini C, Elena C, Milh M, Cantalupo G, Van Maanen A, Tataranno ML, Roberta M. Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke. Epilepsia. November 2024. DOI: 10.1111/epi.18194. Find the publication here |
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Nabbout R, Molimard A, Scorrano G, Aubart M, Breuillard D, Delaune M, Barcia G, Chemaly N, Barthez M, Desguerre I. Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients. Epilepsia. October 2024. DOI: 10.1111/epi.18178. Find the publication here |
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Kälviäinen R, Hadj-Allal Z, Kirjavainen J, Roivainen R, Linnankivi T, Peltola J, Eriksson K, Lamusuo S, Lähdesmäki T, Annunen J, Vieira P, Tarkiainen V, Jutila L, Saarela A, Kämppi L, Metsähonkala L, Gaily E, Lähde N, Antinmaa J, Erme S, Pirttisalo A, Virolainen J, Ylijoki M, Kela L, Komulainen-Ebrahim J, Sorjonen P, Finnish Severe Epilepsy Coordination Group. Epilepsy care pathway: The Finnish model. Epilepsia Open. October 2024. DOI: 10.1002/epi4.13093. Find the publication here |
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Specchio N, Trivisano M, Aronica E, Balestrini S, Arzimanoglou A, Colasante G, Cross H, Jozwiak S, Wilmshurst J, Vigevano F, Auvin S, Nabbout R, Curatolo P. The expanding field of genetic developmental and epileptic encephalopathies. ScienceDirect. 2024. Review. Volume 8, Issue 11p821-834. Find the publication here |
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Schulze-Bonhage A, Steinhoff B, Garcés M, Hirsch M, Villanueva V. Efficacy of add-on Cenobamate treatment in refractory epilepsy due to Rasmussen's encephalitis. EpilepsiaOpen. September 2024. DOI: 10.1002/epi4.13060. Find the publication here |
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Furia F, Johannesen K, Bonardi C, Previtali R, Aledo-Serrano A, Mastrangelo M, Favaro J, Masnada S, di Micco V, Proietti J, Veggiotti P, Rubboli G, Cantalupo G, Olofsson K, Møller R, Gardella E. Sleep disturbances in SCN8A-related disorders. Epilepsia Open. August 2024. DOI: 10.1002/epi4.13042. Find the publication here |
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Mertens A, Papadopoulou M, Athina M, Lesca G, Biela M, Smigiel R, Panagiotakaki E. Epilepsy with eyelid myoclonia in a patient with ATP1A3- related neurologic disorder. Epileptic Disorders. August 2024. DOI: 10.1002/epd2.20272 Find the publication here |
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Specchio N, Auvin S, Strzelczyk A, Brigo F, Villanueva V, Trinka E. Efficacy and safety of stiripentol in the prevention and cessation of status epilepticus: A systematic review. EpilepsiaOpen. August 2024. DOI: 10.1002/epi4.13036. Find the publication here |
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Valente K, Reilly C, M. Carvalho R, Lou M, Mula M, C. Wirrell E, Wilmshurst J, Jetté N, Brigo F, M. Kariuki S, Yi Fong C, Wang Y, V. Polanczyk G, Castanho V, G. Demarchi I, Auvin S, Kerr M. Consensus-based recommendations for the diagnosis and treatment of anxiety and depression in children and adolescents with epilepsy: A report from the Psychiatric Pediatric Issues Task Force of the International League Against Epilepsy. . Epilepsia. August 2024. DOI: 10.1111/epi.18116 Find the publication here |
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Ferreira J, Peixoto R, Lopes L, Beniczky S, Ryvlin P, Conde C, Claro J. User involvement in the design and development of medical devices in epilepsy: A systematic review. . Epilepsia Open. August 2024. DOI: 10.1002/epi4.13038 Find the publication here |
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E. Gjerulfsen. C, Nikanorova M, Olofsson K, Johannessen C, Rubboli G, Møller R. Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real-world study. EpilepsiaOpen. July 2024. DOI: 10.1002/epi4.13029. Find the publication here |
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Riva A, Coppola A, Bisulli F, Verrotti A, Bagnasco I, Elia M, Farra F, Lattanzi S, Meletti S, La Neve A, Di Gennaro G, Brambilla I, Santoro K, Prisco T, Macari F, Gambardella A, Di Bonaventura C, Balestrini S, Marini C, Pruna D, Capovilla G, Specchio N, Gobbi G, Striano P. Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity. Epilepsia Open. July 2024. DOI: 10.1002/epi4.13020 Find the publication here |
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Wirrell E, Lagae L, Scheffer I, Cross H, Specchio N, Strzelczyk A. Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox–Gastaut syndrome in clinical practice. EpilepsiaOpen. June 2024. DOI: 10.1002/epi4.12998. Find the publication here |
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Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C; Chorea & Huntington Disease Group ERN-RND; Ortigoza-Escobar JD. Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders. Eur J Paediatr Neurol. July 2024;51:110-117. doi: 10.1016/j.ejpn.2024.06.007. Find the publication here |
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Defelippe V, Brilstra Eva H, Otte Willem M, Cross H, O'Callaghan F, De Giorgis V, Poduri A, Lerche H, Sisodiya S, Braun K, Jansen F, Perucca E N-of-1 trials in epilepsy: A systematic review and lessons paving the way forward. September 2024. Doi:/10.1111/epi.18068 Find the publication here |
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Sourbron J, Auvin S, Cabral-Lim L, Devlin A, Dluglos D, Hosny H, Marson T, Meador K, Patel A, Penell P, Riney K, Trinka E, Wiebe S, Lagae L. Vitamin D prophylaxis in persons with epilepsy? Epilepsia. June 2024. DOI: 10.1111/epi.18046. Find the publication here |
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Sonawane S, Vít Všianský V, Brázdil M. MicroRNA-mediated regulation of neurotransmitter receptors in epilepsy: A systematic review. Epilepsy Behav. June 2024. Doi: 10.1016/j.yebeh.2024.109912 Find the publication here |
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Eric J, Chez M, Cloyd J, J. Hirsch L, Kälviäinen R, Klen P, Lagae L, Sankar R, Specchio N, Strzelczyk A, Toledo M, Trinka E. Outpatient management of prolonged seizures and seizure clusters to prevent progression to a higher-level emergency: Consensus recommendations of an expert working group. Epileptic Disorders. May 2024. DOI: 10.1002/epd2.20243 Find the publication here |
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Moya V, Adham A, Convers P, Lesca G, Mauguiere F, Soulier H, Arzimanoglou A, Bayat A, Braakman H, Camdessanche J, Casenave P, Chaix Y, Chochoi M, Depienne C, Desportes V, De Ridder J, Dinkelacker V, Gardella E, Kluger G, Jung J, Lemesle M, Margherita M, Mueller M, Poulat A, Platzer K, Roubertie A, Stokman M, Vulto-van A, Wiegand G, Mazzola L. Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy. Doi: 10.1002/ana.27063 Find the publication here |
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De Giorgis V, Pasca L, Aznar-Lain G, Bibic I, Bibic V, Darra F, Dianin A, Dressler A, Jonsson H, Komulainen-Ebrahim J, Kverneland M, Molteberg E, Ragona F, Saint-Martin A, Varesio C, Cross H. Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey. May 2024. Doi: 10.1002/epi4.12968 Find the publication here |
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Přibylová L, Ševčík J, Eclerová V, Klimeš P, Brázdil M, Meijer H. Weak coupling of neurons enables very high-frequency and ultra-fast oscillations through the interplay of synchronized phase shifts. Netw Neurosci. April 2024. 1;8(1):293-318. doi: 10.1162/netn_a_00351. eCollection 2024. Find the publication here |
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Van Arnhem MML, van den Munckhof B, Arzimanoglou A, et al. Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial. Lancet Neurol. April 2024. 2024;23(2):147-156. Find the publication here |
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Auvin S, Guillo S, de Rycke Y, Tran D, Tubach F. Benzodiazepines for pediatric epilepsies and their risks in a cohort within the French health care data. Epilepsia. Published online February 2024. Find the publication here |
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Amin S, Møller RS, Aledo-Serrano A, Arzimanoglou A, Bager P, Jóźwiak S, Kluger GJ, López-Cabeza S, Nabbout R, Partridge CA, Schubert-Bast S, Specchio N, Kälviäinen R. Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey. Epilepsia Open. January 2024. 2024;9(3):832-849. doi: 10.1002/epi4.12914. Find the publication here |
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Papadopoulou MT, Muccioli L, Bisulli F, Klotz KA, Fons C, Trivisano M, Kabulashvili T, Specchio N, Lesca G, Arzimanoglou A. Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE. Epilepsia Open. March 2024;9(3):996-1006. doi: 10.1002/epi4.12930. Find the publication here |
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Bozorg A, Beller C, Jensen L, Arzimanoglou A, Chiron C, Dlugos D, Gaitanis J, Wheless JW, McClung C. Pitfalls of using video-EEG for a trial endpoint in children aged <4 years with focal seizures. Ann Clin Transl Neurol. 2024;11(3):780-790. doi: 10.1002/acn3. Find the publication here |
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Geroldinger M, Verbeeck J, Hooker AC, et al. Statistical recommendations for count, binary, and ordinal data in rare disease cross-over trials. Orphanet J Rare Dis. 2023;18(1):391. doi:10.1186/s13023-023-02990-1 Find the publication here |
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Ancora C, Ortigoza-Escobar JD, Valletti MA, Furia F, Nielsen JEK, Møller RS, Gardella E. Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy. Epileptic Disord. 2024;26(2):219-224. doi: 10.1002/epd2.20203. Find the publication here |
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Orav, K., Bosque Varela, P., Prüwasser, T., Machegger, L., Leitinger, M., Trinka, E., & Kuchukhidze, G. (2023). Post-hypoxic status epilepticus - A distinct subtype of status epilepticus with poor prognosis. Epileptic disorders : international epilepsy journal with videotape, 10.1002/epd2.20164. Advance online publication. Find the publication here |
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Rainer, L. J., Kuchukhidze, G., Trinka, E., Braun, M., Kronbichler, M., Langthaler, P., Zimmermann, G., Kronbichler, L., Said-Yürekli, S., Kirschner, M., Zamarian, L., Schmid, E., Jokeit, H., & Höfler, J. (2023). Recognition and perception of emotions in juvenile myoclonic epilepsy. Epilepsia, 10.1111/epi.17783. Advance online publication. Find the publication here |
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Beuchat, I., Novy, J., Rosenow, F., Kellinghaus, C., Rüegg, S., Tilz, C., Trinka, E., Unterberger, I., Uzelac, Z., Strzelczyk, A., & Rossetti, A. O. (2023). Staged treatment response in Status epilepticus - Lessons from the SENSE registry. Epilepsia, 10.1111/epi.17817. Advance online publication Find the publication here |
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Mancuso, M., Lopriore, P., Lamperti, C., Klopstock, T., Rahman, S., Licchetta, L., Kornblum, C., Wortmann, S. B., Dollfus, H., Papadopoulou, M. T., Arzimanoglou, A., Scarpa, M., Graessner, H., & Evangelista, T. (2023). Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. Journal of neurology, 10.1007/s00415-023-12017-1. Advance online publication. Find the publication here |
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Vorndran, J., Neuner, C., Coras, R. et al. A deep learning-based histopathology classifier for Focal Cortical Dysplasia. Neural Comput & Applic 35, 12775–12792 (2023). Find the publication here |
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Sentmanat, M. K., Papadopoulou, M. T., Prange, L., Fons, C., De Grandis, E., Vezyroglou, A., Boggs, A., Su, S., Comajuan, M., Wuchich, J., Jóhannesson, S., Huaynate, J. A., Stagnaro, M., Megvinov, A., Patel, S., IAHCRC OBSERV-AHC Study Group, Arzimanoglou, A., Vavassori, R., Panagiotakaki, E., & Mikati, M. A. (2023) Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 46, 98–107. Advance online publication. Find the publication here Free access for 50 days |
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Cardenal-Muñoz, E., Auvin, S., Villanueva, V., Cross, J. H., Zuberi, S. M., Lagae, L., & Aibar, J. Á. (2022). Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe. Epilepsia open, 7(1), 11–26. Find the publication here |
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Cossu, A., Lo Barco, T., Proietti, J., Dalla Bernardina, B., Cantalupo, G., Ghobert, L., Brambilla, I., Giarola, E., Costa, A., De Benito, T., Bethge, S., Cardot, S., Montwill, I., Remonato, E., Gramaglia, S., & Darra, F. (2023). Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey. Epilepsy & behavior : E&B, 142, 109153. Find the publication here |
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Lo Barco, T., Corona, L., Solazzi, R., Fiorini, E., Galati, G., Cossu, A., Proietti, J., Francione, S., Dalla Bernardina, B., Darra, F., & Cantalupo, G. (2023). Gelastic seizures and "smiling spasms": A peculiar ictal pattern. Epileptic disorders : international epilepsy journal with videotape, 25(2), 269–273. Find the publication here |
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Balestrini, S., Doccini, V., Giometto, S., Lucenteforte, E., De Masi, S., Giarola, E., Brambilla, I., Pieroni, F., Perulli, M., Battaglia, D., Specchio, N., Ragona, F., Granata, T., Pellacani, S., Ferrari, A., Marini, C., Matricardi, S., Cesaroni, E., Giordano, L., Accorsi, P., … Guerrini, R. (2023). A registry for Dravet syndrome: The Italian experience. Epilepsia open, 10.1002/epi4.12730. Advance online publication. Find the publication here |
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Barba, C., Blumcke, I., Winawer, M. R., Hartlieb, T., Kang, H. C., Grisotto, L., Chipaux, M., Bien, C. G., Heřmanovská, B., Porter, B. E., Lidov, H. G. W., Cetica, V., Woermann, F. G., Lopez-Rivera, J. A., Canoll, P. D., Mader, I., D'Incerti, L., Baldassari, S., Yang, E., Gaballa, A., … SLC35A2 Study Group (2023) Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology, 100(5), e528–e542. Find the publication here |
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Nabbout, R., Kuchenbuch, M., Tinuper, P., Cross, J. H., & Wirrell, E. (2023) 3D figure of epilepsy syndromes. Epilepsia open, 8(1), 217–220. Find the publication here |
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Sourbron, J., Auvin, S., Arzimanoglou, A., Cross, J. H., Hartmann, H., Pressler, R., Riney, K., Sugai, K., Wilmshurst, J. M., Yozawitz, E., & Lagae, L. (2023). 6 Medical treatment in infants and young children with epilepsy: Off-label use of antiseizure medications. Survey Report of ILAE Task Force Medical Therapies in Children. Epilepsia open, 8(1), 77–89. Find the publication here |
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Durach, F., Buturoiu, R., Craiu, D., Cazacu, C., & Bargaoanu, A. (2022). Crisis of confidence in vaccination and the role of social media. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 36, 84–92. Find the publication here |
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Craiu, D., Rener Primec, Z., Lagae, L., Vigevano, F., Trinka, E., Specchio, N., Bakhtadze, S., Cazacu, C., Golli, T., & Zuberi, S. M. (2022). Vaccination and childhood epilepsies. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 36, 57–68. Find the publication here |
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Budisteanu, M., Papuc, S. M., Erbescu, A., Iliescu, C., Dobre, M., Barca, D., Tarta-Arsene, O., Motoescu, C., Dica, A., Sandu, C., Anghelescu, C., Craiu, D., & Arghir, A. (2022). Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. Experimental and therapeutic medicine, 23(1), 101. . Find the publication here |
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Neal, A., Bouet, R., Lagarde, S., Ostrowsky-Coste, K., Maillard, L., Kahane, P., Touraine, R., Catenoix, H., Montavont, A., Isnard, J., Arzimanoglou, A., Hermier, M., Guenot, M., Bartolomei, F., Rheims, S., & Jung, J. (2022). Epileptic spasms are associated with increased stereo-electroencephalography derived functional connectivity in tuberous sclerosis complex. Epilepsia, 63(9), 2359–2370. Find the publication here |
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Welniarz, Q., Gras, D., Roubertie, A., Papadopoulou, M. T., Panagiotakaki, E., & Roze, E. (2023) Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood? Movement disorders : official journal of the Movement Disorder Society, 10.1002/mds.29357. Advance online publication. Find the publication here |
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Meritam Larsen, P., Wüstenhagen, S., Terney, D., Gardella, E., Aurlien, H., & Beniczky, S. (2023). Duration of epileptic seizure types: A data-driven approach. Epilepsia, 64(2), 469–478 Find the publication here, in open-access |
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Henshall, D. C., Arzimanoglou, A., Dedeurwaerdere, S., Guerrini, R., Jozwiak, S., Kokaia, M., Lerche, H., Pitkänen, A., Ryvlin, P., Simonato, M., & Sisodiya, S. M. (2023). . Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER. Epilepsy research, 189, 107068. Find the publication here, open-access for 50 days |
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Bishop, K. I., Isquith, P. K., Gioia, G. A., Knupp, K. G., Scheffer, I. E., Nabbout, R., Specchio, N., Sullivan, J., Auvin, S., Helen Cross, J., Guerrini, R., Farfel, G., Galer, B. S., & Gammaitoni, A. R. (2023). Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment. Epilepsy & behavior : E&B, 138, 108994. Find the publication here |
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Nott, E., Behl, K. E., Brambilla, I., Green, T. E., Lucente, M., Vavassori, R., Watson, A., Dalla Bernardina, B., & Hildebrand, M. S. (2023). Rare. The importance of research, analysis, reporting and education in 'solving' the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE. European journal of medical genetics, 66(3), 104680. Find the publication here |
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Beniczky, S., Tatum, W. O., Blumenfeld, H., Stefan, H., Mani, J., Maillard, L., Fahoum, F., Vinayan, K. P., Mayor, L. C., Vlachou, M., Margitta, S., Ryvlin, P., & Philippe, K. (2022). 0 Seizure semiology: ILAE glossary of terms and their significance. Seizure semiology: ILAE glossary of terms and their significance. Epileptic disorders : international epilepsy journal with videotape, 24(3), 447–495. Find the publication here |
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Arnaud, L., Abi Warde, M. T., Barcia, G., de Bellescize, J., Chatron, N., Faoucher, M., de Saint Martin, A., Héron, D., Jedraszak, G., Lacoste, C., Lèbre, A. S., Jenneson-Lyver, M., Labalme, A., Leguern, E., Mignot, C., Milh, M., Nabbout, R., Nava, C., Panagiotakaki, E., Piton, A., … Lesca, G. (2022). . The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies. European journal of medical genetics, 65(3), 104445 Find the publication here |
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Garel, P., Lesca, G., Ville, D., Poulat, A. L., Chatron, N., Sanlaville, D., Des Portes, V., Arzimanoglou, A., & Lion-François, L. (2022). CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 37, 98–104. Find the publication here |
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Thieux, M., Duca, M., Putois, B., Herbillon, V., Cottone, C., Parmeggiani, A., Arzimanoglou, A., de Bellescize, J., & Franco, P. (2022). . Sleep disorders and ADHD symptoms in children and adolescents with typical absence seizures: An observational study. Epilepsy & behavior : E&B, 128, 108513 Find the publication here |
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Pironi, V., Ciccone, O., Beghi, E., Paragua-Zuellig, H., Patel, A. A., Giussani, G., Bianchi, E., Venegas, V., Vigevano, F., & ILAE Task Force on Access to Treatment (2022). Survey on the worldwide availability and affordability of antiseizure medications: Report of the ILAE Task Force on Access to Treatment. Epilepsia, 63(2), 335–351. Find the publication here |
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Cerulli Irelli, E., Cocchi, E., Ramantani, G., Riva, A., Caraballo, R. H., Morano, A., Giuliano, L., Yilmaz, T., Panagiotakaki, E., Operto, F. F., Giraldez, B. G., Balestrini, S., Silvennoinen, K., Casciato, S., Comajuan, M., Fortunato, F., Giallonardo, A. T., Gamirova, R., Coppola, A., Di Gennaro, G., … EMA study group (2022). 0 The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study. Epilepsia, 10.1111/epi.17450. Advance online publication. Find the publication here |
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Cerulli Irelli, E., Cocchi, E., Ramantani, G., Caraballo, R. H., Giuliano, L., Yilmaz, T., Morano, A., Panagiotakaki, E., Operto, F. F., Gonzalez Giraldez, B., Silvennoinen, K., Casciato, S., Comajuan, M., Balestrini, S., Fortunato, F., Coppola, A., Di Gennaro, G., Labate, A., Sofia, V., Kluger, G. J., … EMA Study Group (2022). Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences. Neurology, 98(18), e1865–e1876. Find the publication here |
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Licchetta, L., Minardi, R., Muccioli, L., Gramegna, L. L., Manners, D. N., Tonon, C., Bisulli, F., & Tinuper, P. (2022). . Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy. Neurology. Genetics, 8(6), e200042. Find the publication here |
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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. (2022). Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies. Nature communications, 13(1), 1822. Find the publication here |
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Barba, C., Blumcke, I., Winawer, M. R., Hartlieb, T., Kang, H. C., Grisotto, L., Chipaux, M., Bien, C. G., Heřmanovská, B., Porter, B. E., Lidov, H. G. W., Cetica, V., Woermann, F. G., Lopez-Rivera, J. A., Canoll, P. D., Mader, I., D'Incerti, L., Baldassari, S., Yang, E., Gaballa, A., … Guerrini, R. (2022). Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology, 10.1212/WNL.0000000000201471. Advance online publication. Find the publication here |
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David C. Henshall,, Alexis Arzimanoglou, Stefanie Dedeurwaerdere, Renzo Guerrini, Sergiusz Jozwiak, Merab Kokaia, Holger Lerche, Asla Pitkänen, Philippe Ryvlin, Michele Simonato, Sanjay M. Sisodiya Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER, Epilepsy Research, Volume 189, 2023, 107068, ISSN 0920-1211. Find the publication here Abstract: Collaboration is essential to the conduct of basic, applied and clinical research and its translation into the technologies and treatments urgently needed to improve the lives of people living with brain diseases and the health professionals who care for them. EPICLUSTER was formed in 2019 by the European Brain Research Area (EBRA) to support the coordination of epilepsy research in Europe. A key objective was to provide a platform to discuss shared research priorities by bringing together scientists and clinicians with multiple stakeholders including patient organisations and industry and the networks and infrastructures that provide healthcare and support research. Additional objectives were to facilitate access and sharing of data and biosamples, working together to ensure epilepsy is a priority for research funding, and embedding a culture of public and patient involvement (PPI) among epilepsy researchers. In this meeting report, we summarise the shared research priorities discussed by the leadership of EPICLUSTER at the recent final meeting. We also briefly review the discussion on patient and industry priorities, guidance on starting PPI for epilepsy researchers, and the sustainability of funding and infrastructures needed to ensure a comprehensive stakeholder-embedded community for epilepsy research. |
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Mitchell, J. W., Noble, A., Baker, G., Batchelor, R., Brigo, F., Christensen, J., French, J., Gil-Nagel, A., Guekht, A., Jette, N., Kälviäinen, R., Leach, J. P., Maguire, M., O'Brien, T., Rosenow, F., Ryvlin, P., Tittensor, P., Tripathi, M., Trinka, E., Wiebe, S., … Marson, T. (2022). Protocol for the development of an international Core Outcome Set for treatment trials in adults with epilepsy: the EPilepsy outcome Set for Effectiveness Trials Project (EPSET). Trials, 23(1), 943. Find the publication here |
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Brunklaus, A., Brünger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M. A., Symonds, J., Andrew, J., Arzimanoglou, A., Delima, S., Gallois, J., Hanrahan, D., Lesca, G., MacLeod, S., Marjanovic, D., McTague, A., Nuñez-Enamorado, N., Perez-Palma, E., Scott Perry, M., … Cestèle, S. (2022). The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain : a journal of neurology, 145(11), 3816–3831. Find the publication here |
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Silvennoinen, K., Säisänen, L., Hyppönen, J., Rissanen, S. M., Karjalainen, P. A., D'Ambrosio, S., Jimenez-Jimenez, D., Zagaglia, S., Rothwell, J. C., Balestrini, S., Sisodiya, S. M., Julkunen, P., Mervaala, E., & Kälviäinen, R. (2022). Short- and long-interval intracortical inhibition in EPM1 is related to genotype. Epilepsia, 10.1111/epi.17466. Advance online publication. Find the publication here |
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Blümcke, I., Biesel, E., Bedenlier, S., Händel, M., Wilmshurst, J., Mehndiratta, M. M., Yacubian, E. M., Cendes, F., Arzimanoglou, A., Beniczky, S., Wolf, P., Giavasi, C., Baxendale, S., Shisler, P., & Wiebe, S. (2022). A structured, blended learning program towards proficiency in epileptology: the launch of the ILAE Academy Level 2 Program. A structured, blended learning program towards proficiency in epileptology: the launch of the ILAE Academy Level 2 Program. Epileptic disorders : international epilepsy journal with videotape, 24(5), 737–750. Find the publication here |
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Neal, A., Bouet, R., Lagarde, S., Ostrowsky-Coste, K., Maillard, L., Kahane, P., Touraine, R., Catenoix, H., Montavont, A., Isnard, J., Arzimanoglou, A., Hermier, M., Guenot, M., Bartolomei, F., Rheims, S., & Jung, J. (2022). Epileptic spasms are associated with increased stereo-electroencephalography derived functional connectivity in tuberous sclerosis complex. Epilepsia, 63(9), 2359–2370. Find the publication here |
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Gregorčič, S., Hrovat, J., Bizjak, N., Rener Primec, Z., Hostnik, T., Stres, B., Perković Benedik, M., & Osredkar, D. (2022). Difficult to treat absence seizures in children: A single-center retrospective study. Frontiers in neurology, 13, 958369. Find the publication here |
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Henning, O., Alfstad, K. Å., Johannessen Landmark, C., Helmstaedter, C., Lossius, M. I., & Holth Skogan, A. (2022). Use of screening tools to assess comorbidities and adverse events in patients with epilepsy. A European Reference Network for Rare and Complex Epilepsies (EpiCARE) survey. Seizure, 101, 237–243. Advance online publication. Find the publication here |
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Juliá-Palacios, N., Molina-Anguita, C., Sigatulina Bondarenko, M., Cortès-Saladelafont, E., Aparicio, J., Cuadras, D., Horvath, G., Fons, C., Artuch, R., García-Cazorla, À., & Institut de Recerca Sant Joan de Déu Working Group (2022). Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy. Developmental medicine and child neurology, 64(7), 915–923. Cross-ERN publication. Find the publication here |
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Sitaš, B., Bobić-Rasonja, M., Mrak, G., Trnski, S., Krbot Skorić, M., Orešković, D., Knezović, V., Petelin Gadže, Ž., Petanjek, Z., Šimić, G., Kolenc, D., & Jovanov Milošević, N. (2022). Reorganization of the Brain Extracellular Matrix in Hippocampal Sclerosis. International journal of molecular sciences, 23(15), 8197. Find the publication here |
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Wickstrom, R., Taraschenko, O., Dilena, R., Payne, E. T., Specchio, N., Nabbout, R., Koh, S., Gaspard, N., Hirsch, L. J., & International NORSE Consensus Group (2022). International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) including Febrile Infection-Related Epilepsy Syndrome (FIRES): Summary and Clinical Tools. Epilepsia, 10.1111/epi.17391. Advance online publication. Find the publication here |
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Goselink, R., Olsson, I., Malmgren, K., & Reilly, C. (2022). Transition to adult care in epilepsy: A systematic review. Seizure, 101, 52–59. Advance online publication. Find the publication here |
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Granata, T., Fusco, L., Matricardi, S., Tozzo, A., Janigro, D., & Nabbout, R. (2022). Inflammation in pediatric epilepsies: Update on clinical features and treatment options. Epilepsy & behavior : E&B, 131(Pt B), 107959. Find the publication here |
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Brunklaus, A., Brünger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M. A., Symonds, J., Andrew, J., Arzimanoglou, A., Delima, S., Gallois, J., Hanrahan, D., Lesca, G., MacLeod, S., Marjanovic, D., McTague, A., Nuñez-Enamorado, N., Perez-Palma, E., Scott Perry, M., … Cestèle, S. (2022). The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain : a journal of neurology, awac210. Advance online publication. Find the publication here |
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Maillard, P. Y., Baer, S., Schaefer, É., Desnous, B., Villeneuve, N., Lépine, A., Fabre, A., Lacoste, C., El Chehadeh, S., Piton, A., Porter, L. F., Perriard, C., Wardé, M. A., Spitz, M. A., Laugel, V., Lesca, G., Putoux, A., Ville, D., Mignot, C., Héron, D., … Milh, M. (2022). Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation. Epilepsia, 10.1111/epi.17336. Advance online publication. Find the publication here |
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Neal, A., Bouet, R., Lagarde, S., Ostrowsky-Coste, K., Maillard, L., Kahane, P., Touraine, R., Catenoix, H., Montavont, A., Isnard, J., Arzimanoglou, A., Hermier, M., Guenot, M., Bartolomei, F., Rheims, S., & Jung, J. (2022). Epileptic spasms are associated with increased stereo-electroencephalography derived functional connectivity in tuberous sclerosis complex. Epilepsia, 10.1111/epi.17353. Advance online publication. Find the publication here |
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Guerrini, R., Specchio, N., Aledo-Serrano, Á., Pringsheim, M., Darra, F., Mayer, T., Gil-Nagel, A., Polster, T., Zuberi, S. M., Lothe, A., Gammaitoni, A., & Strzelczyk, A. (2022). An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real-world practice setting: A report from the Fenfluramine European Early Access Program. Epilepsia open, 10.1002/epi4.12624. Advance online publication. Find the publication here |
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Christensen, J., Dreier, J. W., Sun, Y., Linehan, C., Tomson, T., Marson, A., Forsgren, L., Granbichler, C. A., Trinka, E., Illiescu, C., Malmgren, K., Kjellberg, J., Ibsen, R., Jennum, P. J., & ESBACE Consortium and ESBACE Collaborators (2022). Estimates of epilepsy prevalence, psychiatric co-morbidity and cost. Seizure, S1059-1311(22)00144-3. Advance online publication. Find the publication here |
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Jabari, S., Kobow, K., Pieper, T., Hartlieb, T., Kudernatsch, M., Polster, T., Bien, C. G., Kalbhenn, T., Simon, M., Hamer, H., Rössler, K., Feucht, M., Mühlebner, A., Najm, I., Peixoto-Santos, J. E., Gil-Nagel, A., Delgado, R. T., Aledo-Serrano, A., Hou, Y., Coras, R., … Blümcke, I. (2022). DNA methylation-based classification of malformations of cortical development in the human brain. Acta neuropathologica, 143(1), 93–104. Find the publication here |
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Dollfus, H., Arzimanoglou, A., Scarpa, M.(2022) The European Reference Networks for rare and complex diseases respond to the Ukrainian crisis. The Lancet Regional Health - Europe 2022;00: 100464 Find the publication here |
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Blazekovic, A., Gotovac Jercic, K., Meglaj, S., Duranovic, V., Prpic, I., Lozic, B., Malenica, M., Markovic, S., Lujic, L., Petelin Gadze, Z., et al. (2022) Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice. Genes 2022, 13, 1466. Find the publication here |
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Lesca, G., Baumgartner, T., Monin, P., De Dominicis, A., Kunz, W. S., & Specchio, N. (2022). Genetic causes of rare and common epilepsies: What should the epileptologist know?. European journal of medical genetics, 65(9), 104570. Advance online publication. Find the publication here |
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Cardenal-Muñoz, E., Auvin, S., Villanueva, V., Cross, J. H., Zuberi, S. M., Lagae, L., & Aibar, J. Á. (2022). Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe. Epilepsia open, 7(1), 11–26. https://doi.org/10.1002/epi4.12569 Free PMC article, |
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McTague, A., Brunklaus, A., Barcia, G., Varadkar, S., Zuberi, S. M., Chatron, N., Parrini, E., Mei, D., Nabbout, R., & Lesca, G. (2022). Defining causal variants in rare epilepsies: An essential team effort between biomedical scientists, geneticists and epileptologists. European journal of medical genetics, 104531. Advance online publication. Find the publication here, |
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Martinez-Esteve Melnikova, A., Pijuan, J., Aparicio, J., Ramírez, A., Altisent-Huguet, A., Vilanova-Adell, A., Arzimanoglou, A., Armstrong, J., Palau, F., Hoenicka, J., & San Antonio-Arce, V. (2022). The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient. European journal of medical genetics, 104442. Find the publication here, accessible for 50 days. |
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Rocamora, R., Chavarría, B., Pérez, E., Pérez-Enríquez, C., Barguilla, A., Panadés-de Oliveira, L., Principe, A., & Zucca, R. (2021). Mood Disturbances, Anxiety, and Impact on Quality of Life in Patients Admitted to Epilepsy Monitoring Units. Frontiers in neurology, 12, 761239. Find the publication in pdf here, in open-source. |
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Sanchez-Larsen, A., Principe, A., Ley, M., Navarro-Cuartero, J., & Rocamora, R. (2021). Characterization of the Insular Role in Cardiac Function through Intracranial Electrical Stimulation of the Human Insula. Annals of neurology, 89(6), 1172–1180. Find the publication here. |
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Beniczky, S., Husain, A., Ikeda, A., Alabri, H., Helen Cross, J., Wilmshurst, J., Seeck, M., Focke, N., Braga, P., Wiebe, S., Schuele, S., & Trinka, E. (2021). Importance of access to epilepsy monitoring units during the COVID-19 pandemic: Consensus statement of the International League against epilepsy and the International Federation of Clinical Neurophysiology. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 132(9), 2248–2250. Find the publication here. |
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Lo Barco, T., De Gaetano, L., Santangelo, E., Bravi, T., Proietti, J., Cantalupo, G., Brambilla, I., & Darra, F. (2021). SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life. Epilepsy & behavior : E&B, 127, 108500. Advance online publication. Find the publication here. |
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Rocamora, R., Chavarría, B., Pérez, E., Pérez-Enríquez, C., Barguilla, A., Panadés-de Oliveira, L., Principe, A., & Zucca, R. (2021). Mood Disturbances, Anxiety, and Impact on Quality of Life in Patients Admitted to Epilepsy Monitoring Units. Frontiers in neurology, 12, 761239. Find the publication here. |
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Zhao, L., Li, J., Kälviäinen, R., Jolkkonen, J., & Zhao, C. (2021). Impact of drug treatment and drug interactions in post-stroke epilepsy. Pharmacology & therapeutics, 108030. Advance online publication. Find the publication here. |
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Bjellvi J, Cross JH, Gogou M, Leclercq M, Rheims S, Ryvlin P, Sperling MR, Rydenhag B, Malmgren K. (2021). Classification of complications of epilepsy surgery and invasive diagnostic procedures: A proposed protocol and feasibility study. Epilepsia. 2021 Aug 18. Find the publication here. In epilepsy surgery, which aims to treat seizures and thereby to improve the lives of persons with drug-resistant epilepsy, the chances of attaining seizure relief must be carefully weighed against the risks of complications and expected adverse events. The interpretation of data regarding complications of epilepsy surgery and invasive diagnostic procedures is hampered by a lack of uniform definitions and method of data collection. |
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Arzimanoglou, A., Pringsheim, M., Kluger, G. J., Genton, P., Perdomo, C., & Malhotra, M. (2021). . Safety and efficacy of rufinamide in children and adults with Lennox-Gastaut syndrome: A post hoc analysis from Study 022. Epilepsy & behavior : E&B, 124, 108275.. Find the publication here. Lennox-Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy with the first symptoms usually appearing during early childhood. Due to the highly variable underlying etiologies, LGS cannot be considered as one disease but as an electro-clinical entity, often challenging to diagnose early and treat accordingly. The anti-seizure medication, rufinamide, is indicated for the adjunctive treatment of patients with LGS aged ≥1 year. This post hoc analysis assessed the safety and efficacy of adjunctive rufinamide for total and tonic-atonic seizures during Study 022 in children (aged <16 years) and adults (aged ≥16 years). |
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Linehan, C., Benson, A., Gunko, A., Christensen, J., Sun, Y., Tomson, T., Marson, A., Forsgren, L., Trinka, E., Iliescu, C., Althoehn Sonderup, J., Werenberg Dreier, J., Sandu, C., Leanca, M., Rainer, L., Kobulashvili, T., Granbichler, C. A., Delanty, N., Doherty, C., Staines, A., … ESBACE Consortium and Collaborators (2021).. Exploring the prevalence and profile of epilepsy across Europe using a standard retrospective chart review: Challenges and opportunities. Epilepsia. Find the publication here. This study aimed to determine the prevalence of epilepsy in four European countries (Austria, Denmark, Ireland, and Romania) employing a standard methodology. The study was conducted under the auspices of ESBACE (European Study on the Burden and Care of Epilepsy). |
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Ryvlin, P., & Nguyen, D. K. (2021). Insular seizures and epilepsies: Ictal semiology and minimal invasive surgery. Current opinion in neurology, 34(2), 153–165. Find the publication here. “Significant progress has been made in the identification and surgical treatment of insular and insulo-opercular epilepsies, including more precise anatomo-clinical correlations to optimally plan SEEG investigations, and experience in using minimal invasive surgery to reduce peri-operative morbidity.” |
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Mikati, M. A., Panagiotakaki, E., & Arzimanoglou, A. (2021). Revision of the diagnostic criteria of alternating hemiplegia of childhood. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, S1090-3798(21)00099-4. Advance online publication. Find the publication here. |
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Kotulska, K., Kwiatkowski, D. J., Curatolo, P., Weschke, B., Riney, K., Jansen, F., Feucht, M., Krsek, P., Nabbout, R., Jansen, A. C., Wojdan, K., Sijko, K., Głowacka-Walas, J., Borkowska, J., Sadowski, K., Domańska-Pakieła, D., Moavero, R., Hertzberg, C., Hulshof, H., Scholl, T., … EPISTOP Investigators (2021). Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial. Annals of neurology, 89(2), 304–314. Find the publication here. “This European multicentre randomised controlled trial is designed to compare the effects of corticosteroids and clobazam on cognitive functioning after 6 months. Secondary outcomes include cognitive functioning after 18 months, EEG abnormalities in sleep, safety and tolerability, and seizure frequency. We also aimed at investigating whether treatment response in epileptic encephalopathy with ESES can be predicted by measurement of inflammatory mediators and autoantibodies in serum”. |
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Barba, C., Cossu, M., Guerrini, R., Di Gennaro, G., Villani, F., De Palma, L., Grisotto, L., Consales, A., Battaglia, D., Zamponi, N., d’Orio, P., Revay, M., Rizzi, M., Casciato, S., Esposito, V., Quarato, P. P., Di Giacomo, R., Didato, G., Pastori, C., Pavia, G. C., … Tassi, L. (2021). Temporal lobe epilepsy surgery in children and adults: A multicenter study. Epilepsia, 62(1), 128–142. Find the publication here. “Clinical differences between adult and pediatric patients undergoing TLE surgery are reflected in differences in long-term outcomes and predictors of failures. Children are more likely to achieve sustained seizure freedom and withdraw AEDs after TLE surgery. Earlier referral should be encouraged as it can improve surgical outcome.“ |
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Pressler, R. M., Cilio, M. R., Mizrahi, E. M., Moshé, S. L., Nunes, M. L., Plouin, P., Vanhatalo, S., Yozawitz, E., de Vries, L. S., Puthenveettil Vinayan, K., Triki, C. C., Wilmshurst, J. M., Yamatomo, H., & Zuberi, S. M. (2021). The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia, 10.1111/epi.16815. Advance online publication. Find the publication here. The International League Against Epilepsy (ILAE) presents a new classification and framework for seizures in the neonatal period in line with 2017 ILAE classifications. |
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Baumgartner, T, Carreño, M, Rocamora, R, et al. A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies. Epilepsia Open. 2021; 6: 160– 170. Find the publication here. “The survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers.” Free PDF |
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Hyppönen, J., Hakala, A., Annala, K., Zhang, H., Peltola, J., Mervaala, E., & Kälviäinen, R. (2020). Automatic assessment of the myoclonus severity from videos recorded according to standardized Unified Myoclonus Rating Scale protocol and using human pose and body movement analysis. Seizure, 76, 72–78. Advance online publication. Find the publication here. |
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Vetro, A., Nielsen, H. N., Holm, R., Hevner, R. F., Parrini, E., Powis, Z., Møller, R. S., Bellan, C., Simonati, A., Lesca, G., Helbig, K. L., Palmer, E. E., Mei, D., Ballardini, E., Haeringen, A. V., Syrbe, S., Leuzzi, V., Cioni, G., Curry, C. J., Costain, G., … Guerrini, R. (2021). ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain : a journal of neurology, awab052. Advance online publication. Find the publication here. |
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Brambilla, I., Aibar, J. Á., Hallet, A. S., Bibic, I., Cardenal-Muñoz, E., Prpic, I., Darra, F., Specchio, N., & Nabbout, R. (2021). Impact of the COVID-19 lockdown on patients and families with Dravet syndrome. Epilepsia open, 6(1), 216–224. Find the publication here. |
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Kobow, K., Jabari, S., Pieper, T., Kudernatsch, M., Polster, T., Woermann, F. G., Kalbhenn, T., Hamer, H., Rössler, K., Mühlebner, A., Spliet, W., Feucht, M., Hou, Y., Stichel, D., Korshunov, A., Sahm, F., Coras, R., Blümcke, I., & von Deimling, A. (2020). Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay. Acta neuropathologica, 140(6), 881–891. Find the publication here |
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Beniczky, S., Aurlien, H., Franceschetti, S., Martins da Silva, A., Bisulli, F., Bentes, C., Canafoglia, L., Ferri, L., Krýsl, D., Rita Peralta, A., Rácz, A., Cross, J. H., & Arzimanoglou, A. (2020). Interrater agreement of classification of photoparoxysmal electroencephalographic response. Epilepsia, 61(9), e124–e128. Find the publication here. |
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Krysl, D., Beniczky, S., Franceschetti, S., & Arzimanoglou, A. (2020). The COVID-19 outbreak and approaches to performing EEG in Europe. Epileptic disorders : international epilepsy journal with videotape, 22(5), 548–554. Find the publication here. |
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Van den Munckhof, B., Arzimanoglou, A., Perucca, E., van Teeseling, H. C., Leijten, F., Braun, K., Jansen, F. E., & RESCUE ESES study group (2020). Corticosteroids versus clobazam in epileptic encephalopathy with ESES: a European multicentre randomised controlled clinical trial (RESCUE ESES*). Trials, 21(1), 957. Find the publication here. “Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant to medication. Recently, the concept of preventive antiepileptic treatment to modify the natural history of epilepsy has been proposed. EPISTOP was a clinical trial designed to compare preventive versus conventional antiepileptic treatment in TSC infants”. |
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Lamberink, H. J., Otte, W. M., Blümcke, I., Braun, K., European Epilepsy Brain Bank writing group, study group, & European Reference Network EpiCARE (2020). Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study. The Lancet. Neurology, 19(9), 748–757. Find the publication here. “Histopathological diagnosis, age at surgery, and duration of epilepsy are important prognostic factors for outcomes of epilepsy surgery. In every patient with refractory focal epilepsy presumed to be lesional, evaluation for surgery should be considered.” Free PDF |
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Blumcke, I., Spreafico, R., Haaker, G., Coras, R., Kobow, K., Bien, C. G., Pfäfflin, M., Elger, C., Widman, G., Schramm, J., Becker, A., Braun, K. P., Leijten, F., Baayen, J. C., Aronica, E., Chassoux, F., Hamer, H., Stefan, H., Rössler, K., Thom, M., … EEBB Consortium (2017). Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery. The New England journal of medicine, 377(17), 1648–1656. Find the publication here. “Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy. We report the diagnoses made on the basis of resected brain specimens from 9523 patients who underwent epilepsy surgery for drug-resistant seizures in 36 centers from 12 European countries over 25 years. Histopathological diagnoses were determined through examination of the specimens in local hospitals (41%) or at the German Neuropathology Reference Center for Epilepsy Surgery (59%).” Free PDF |
| Pre-surgical evaluation and Epilepsy Surgery publications |
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Barba C, Pelliccia V, Grisotto L, De Palma L, Nobile G, Gozzo F, Revay M, Carfi-Pavia G, Cossu M, Giordano F, Consales A, De Benedictis A, Cavallini E, Mion C, Accolla C, Specchio N, Nobili L, Guerrini R, Tassi L. Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study. doi: 10.1002/epi4.12965 Find the publication here |
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Rizzi M, Consales A, Tramacere I, De Benedictis A, Bua A, Scpecchio N, De Palma L, Cognolato E, Nobili L, Tortora D, Barba C, Pommella M, Giordano F, Pastori C, Marchetti M, Garbelli R, Zucchelli M, Martinoni M, Ferri L, Martucci M, Tamburrini G, Bianchi F, Passamonti C, Di Gennaro G, Villani F, Tassi L, Marras C. Surgical and radiosurgical treatment of hypothalamic hamartoma: The Italian experience between 2011 and 2021. 10.1002/epi4.12989 Find the publication here |
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Straka B, Splitkova B, Vlckova M, Tesner P, Rezacova H, Krskova L, Koblizek M, Kyncl M, Maulisova A, Bukacova K, Uhrova-Meszarosova A, Musilova A, Kudr M, Ebel M, Belohlavkova A, Jahodova A, Liby P, Tichy M, Jezdik P, Zamecnik J, Aronica E, Krsek P. Genetic testing in children enrolled in epilepsy surgery program. A real-life study. Eur J Paediatr Neurol. 2023;47:80-87. doi: 10.1016/j.ejpn.2023.09.009. Find the publication here |
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Barba C, Pelliccia V, Grisotto L, De Palma L, Nobile, G, Gozzo F, Revay M, Carfi-Pavia G, Cossu M, Giordano F, Consales A, De Benedictis A, Cavallini E, Mion C, Accolla C, Specchio N, Nobili L, Guerrini R, Tassi L. Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study. Epilepsia open. DOI: 10.1002/epi4.12965 Find the publication here |
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Frauscher B, Mansilla D, Abdallah C, Astner-Rohracher A, Beniczky S, Brazdil M, Gnatkovsky V, Jacobs J, Kalamangalam G, Perucca P, Ryvlin P, Schuele S, Tao J, Wang Y, Zijlmans M, McGonigal A. Learn how to interpret and use intracranial EEG findings. Epileptic Disord. 2024;26(1):1-59. doi: 10.1002/epd2.20190. Find the publication here |
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Ryvlin P, Barba C, Bartolomei F, et al. Grading system for assessing the confidence in the epileptogenic zone reported in published studies: A Delphi consensus study. Epilepsia. Published online February 29, 2024. Find the publication here |
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Sanders MW, Van der Wolf I, Jansen FE, et al. Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue. Neurology. 2024;102(4):e208007. Find the publication here |
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Rados, M., Mouthaan, B., Barsi, P., Carmichael, D., Heckemann, R. A., Kelemen, A., Kobulashvili, T., Kuchukhidze, G., Marusic, P., Minkin, K., Tisdall, M., Trinka, E., Veersema, T., Vos, S. B., Wagner, J., Braun, K., & van Eijsden, P. (2022). Diagnostic value of MRI in the presurgical evaluation of patients with epilepsy: influence of field strength and sequence selection: a systematic review and meta-analysis from the E-PILEPSY Consortium. Epileptic disorders : international epilepsy journal with videotape, 24(2), 323–342. Find the publication here |
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Rados, M., Mouthaan, B., Barsi, P., Carmichael, D., Heckemann, R. A., Kelemen, A., Kobulashvili, T., Kuchukhidze, G., Marusic, P., Minkin, K., Tisdall, M., Trinka, E., Veersema, T., Vos, S. B., Wagner, J., Braun, K., & van Eijsden, P. (2022). Diagnostic value of MRI in the presurgical evaluation of patients with epilepsy: influence of field strength and sequence selection: a systematic review and meta-analysis from the E-PILEPSY Consortium. Epileptic disorders : international epilepsy journal with videotape, 24(2), 323–342. Find the publication here |
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Cross, J. H., Reilly, C., Gutierrez Delicado, E., Smith, M. L., & Malmgren, K. (2022) Epilepsy surgery for children and adolescents: evidence-based but underused. The Lancet. Child & adolescent health, 6(7), 484–494. Find the publication here |
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Chávez López, E. K., Aparicio, J., Valera, C., Campistol Plana, J., Ramírez Camacho, A., Fons, C., & Arzimanoglou, A. (2022).. Pre-surgical evaluation challenges and long-term outcome in children operated on for Low Grade Epilepsy Associated brain Tumors. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 41, 55–62. Advance online publication. Find the publication here |
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Jehi, L., Jette, N., Kwon, C. S., Josephson, C. B., Burneo, J. G., Cendes, F., Sperling, M. R., Baxendale, S., Busch, R. M., Triki, C. C., Cross, J. H., Ekstein, D., Englot, D. J., Luan, G., Palmini, A., Rios, L., Wang, X., Roessler, K., Rydenhag, B., Ramantani, G., … Wiebe, S. (2022). Timing of referral to evaluate for epilepsy surgery: Expert Consensus Recommendations from the Surgical Therapies Commission of the International League Against Epilepsy. Epilepsia, 63(10), 2491–2506. Find the publication here |
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Barba, C., Giometto, S., Lucenteforte, E., Pellacani, S., Matta, G., Bettiol, A., Minghetti, S., Falorni, L., Melani, F., Di Giacomo, G., Giordano, F., De Masi, S., & Guerrini, R. (2022). Seizure Outcome of Temporal Lobe Epilepsy Surgery in Adults and Children: A Systematic Review and Meta-Analysis. Neurosurgery, 10.1227/neu.0000000000002094. Advance online publication. Find the publication here |
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Heers, M., Böttcher, S., Kalina, A., Katletz, S., Altenmüller, D. M., Baroumand, A. G., Strobbe, G., van Mierlo, P., von Oertzen, T. J., Marusic, P., Schulze-Bonhage, A., Beniczky, S., & Dümpelmann, M. (2022). Detection of interictal epileptiform discharges in an extended scalp EEG array and high-density EEG-A prospective multicenter study. Epilepsia, 10.1111/epi.17246. Advance online publication. Find the publication here |
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Ley, M., Peláez, N., Principe, A., Langohr, K., Zucca, R., & Rocamora, R. (2022). Validation of direct cortical stimulation in presurgical evaluation of epilepsy. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 137, 38–45. Advance online publication . Find the publication here. |
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Cohen, N. T., Cross, J. H., Arzimanoglou, A., Berkovic, S. F., Kerrigan, J. F., Miller, I. P., Webster, E., Soeby, L., Cukiert, A., Hesdorffer, D. K., Kroner, B. L., Saper, C. B., Schulze-Bonhage, A., Gaillard, W. D., & Hypothalamic Hamartoma Writing Group (2021). Hypothalamic Hamartomas: Evolving Understanding and Management. Neurology, 97(18), 864–873. Find the publication here. |
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Gaillard, W. D., Jette, N., Arnold, S. T., Arzimanoglou, A., Braun, K., Cukiert, A., Dick, A., Harvey, A. S., Jacobs, J., Rydenhag, B., Udani, V., Wilmshurst, J. M., Cross, J. H., Jayakar, P., & Task Force for Pediatric Epilepsy Surgery, Commission for Pediatrics, and the Surgical Commission of the International League Against Epilepsy (2020). Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force. Epilepsia, 61(12), 2629–2642. Find the publication here "Presurgical evaluation and surgery in the pediatric age group are unique in challenges related to caring for the very young, range of etiologies, choice of appropriate investigations, and surgical procedures. Accepted standards that define the criteria for levels of presurgical evaluation and epilepsy surgery care do not exist. Through a modified Delphi process involving 61 centers with experience in pediatric epilepsy surgery across 20 countries, including low-middle- to high-income countries, we established consensus for two levels of care." |
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Kobulashvili, T., Höfler, J., Dobesberger, J., Ernst, F., Ryvlin, P., Cross, J. H., Braun, K., Dimova, P., Francione, S., Hecimovic, H., Helmstaedter, C., Kimiskidis, V. K., Lossius, M. I., Malmgren, K., Marusic, P., Steinhoff, B. J., Boon, P., Craiu, D., Delanty, N., Fabo, D., … Trinka, E. (2016). Current practices in long-term video-EEG monitoring services: A survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery. Seizure, 38, 38–45. Find the publication here. “The European Union-funded E-PILEPSY network aims to improve awareness of, and accessibility to, epilepsy surgery across Europe. In this study we assessed current clinical practices in epilepsy monitoring units (EMUs) in the participating centers.” |
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Kobulashvili, T., Kuchukhidze, G., Brigo, F., Zimmermann, G., Höfler, J., Leitinger, M., Dobesberger, J., Kalss, G., Rohracher, A., Neuray, C., Wakonig, A., Ernst, F., Braun, K., Mouthaan, B. E., Van Eijsden, P., Ryvlin, P., Cross, J. H., Trinka, E., & E-PILEPSY consortium (2018). Diagnostic and prognostic value of noninvasive long-term video-electroencephalographic monitoring in epilepsy surgery: A systematic review and meta-analysis from the E-PILEPSY consortium. Epilepsia, 59(12), 2272–2283. Find the publication here. “The European Union-funded E-PILEPSY network (now continuing within the European Reference Network for rare and complex epilepsies [EpiCARE]) aims to harmonize and optimize presurgical diagnostic procedures by creating and implementing evidence-based guidelines across Europe. The present study evaluates the current evidence on the diagnostic accuracy of long-term video-electroencephalographic monitoring (LTM) in identifying the epileptogenic zone in epilepsy surgery candidates.” |
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Mouthaan, B. E., Rados, M., Boon, P., Carrette, E., Diehl, B., Jung, J., Kimiskidis, V., Kobulashvili, T., Kuchukhidze, G., Larsson, P. G., Leitinger, M., Ryvlin, P., Rugg-Gunn, F., Seeck, M., Vulliémoz, S., Huiskamp, G., Leijten, F., Van Eijsden, P., Trinka, E., Braun, K., … E-PILEPSY consortium (2019). Diagnostic accuracy of interictal source imaging in presurgical epilepsy evaluation: A systematic review from the E-PILEPSY consortium. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 130(5), 845–855. Find the publication here. “Interictal high resolution (HR-) electric source imaging (ESI) and magnetic source imaging (MSI) are non-invasive tools to aid epileptogenic zone localization in epilepsy surgery candidates. We carried out a systematic review on the diagnostic accuracy and quality of evidence of these modalities.” |
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Mouthaan, B. E., Rados, M., Barsi, P., Boon, P., Carmichael, D. W., Carrette, E., Craiu, D., Cross, J. H., Diehl, B., Dimova, P., Fabo, D., Francione, S., Gaskin, V., Gil-Nagel, A., Grigoreva, E., Guekht, A., Hirsch, E., Hecimovic, H., Helmstaedter, C., Jung, J., … E-PILEPSY consortium (2016). Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe. Epilepsia, 57(5), 770–776. Find the publication here. “In 2014 the European Union-funded E-PILEPSY project was launched to improve awareness of, and accessibility to, epilepsy surgery across Europe. We aimed to investigate the current use of neuroimaging, electromagnetic source localization, and imaging postprocessing procedures in participating centers.” |
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Schmid, E., Thomschewski, A., Taylor, A., Zimmermann, G., Kirschner, M., Kobulashvili, T., Brigo, F., Rados, M., Helmstaedter, C., Braun, K., Trinka, E., & E-PILEPSY consortium (2018). Diagnostic accuracy of functional magnetic resonance imaging, Wada test, magnetoencephalography, and functional transcranial Doppler sonography for memory and language outcome after epilepsy surgery: A systematic review. Epilepsia, 59 (12), 2305–2317. Find the publication here. “In this systematic review, we aimed to assess the diagnostic accuracy of functional magnetic resonance imaging (fMRI), Wada test, magnetoencephalography (MEG), and functional transcranial Doppler sonography (fTCD) for memory and language decline after surgery.” |
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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., … E-PILEPSY consortium (2017). Current standards of neuropsychological assessment in epilepsy surgery centers across Europe. Epilepsia, 58 (3), 343–355. Find the publication here. The International League Against Epilepsy (ILAE) presents a new classification and framework for seizures in the neonatal period in line with 2017 ILAE classifications. |
| ILAE position papers and Clinical Practice Guidelines |
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Yozawitz E, Roberta M, Mizrahi E, Young J, Moshé S, Nunes M, Plouin P, Zuberi S, Plessler R. ILAE neonatal seizure framework to aide in determining etiology. EpilepticDisorders. October 2024. DOI: 10.1002/epd2.20312. Find the publication here |
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Vignatelli L, Tontini V, Meletti S, Camerlingo M, Mazzoni S, Giovannini G, Pasini E, Michelucci R, Bisulli F, Tinuper P, Di Vito L. Clinical practice guidelines on the management of status epilepticus in adults: A systematic review. Epilepsia. 2024;65(6):1512-1530. doi: 10.1111/epi.17982. Find the publication here |
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Sheikh IS, Katyal R, Hadjinicolaou A, Bibby BM, Olandoski M, Nascimento FA, Beniczky S. The online educational tool "Roadmap to EEGs" significantly improved trainee performance in recognizing EEG patterns. Epileptic Disord. 2024 Apr 30. doi: 10.1002/epd2.20227. Epub ahead of print. PMID: 38687239. Find the publication here |
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Krey, I., Platzer, K., Esterhuizen, A., Berkovic, S. F., Helbig, I., Hildebrand, M. S., Lerche, H., Lowenstein, D., Møller, R. S., Poduri, A., Sadleir, L., Sisodiya, S. M., Weckhuysen, S., Wilmshurst, J. M., Weber, Y., Lemke, J. R., Berkovic, S. F., Cross, J. H., Helbig, I., Lerche, H., … Weckhuysen, S. (2022). Current practice in diagnostic genetic testing of the epilepsies. Current practice in diagnostic genetic testing of the epilepsies. Epileptic disorders : international epilepsy journal with videotape, 24(5), 765–786. Find the publication here |
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Terman, S. W., Slinger, G., Rheaume, C. E., Haque, A. S., Smith, S. N., van Griethuysen, R., van Asch, C. J. J., Otte, W. M., Burke, J. F., & Braun, K. P. J. (2023). Antiseizure Medication Withdrawal Practice Patterns: A Survey Among Members of the American Academy of Neurology and EpiCARE. Neurology. Clinical practice, 13(1), e200109. Find the publication here |
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Peltola, M. E., Leitinger, M., Halford, J. J., Vinayan, K. P., Kobayashi, K., Pressler, R. M., Mindruta, I., Mayor, L. C., Lauronen, L., & Beniczky, S. (2023). Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 147, 108–120. Find the publication here |
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Rauh R, Auvin S, Schulze-Bonhage A. Between fear of death and just a warning sign: Seizure severity scales neglect the subjective quality of periictal perceptions.Epilepsy & Behavior 159 (2024) 110020. Find the publication here |
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Pressler RM, Abend NS, Auvin S, et al. Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.Epilepsia. 2023;64(10):2550-2570. doi:10.1111/epi.17745 Find the publication here |
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Auvin S, Arzimanoglou A, Brambilla I, French J, Knupp KG, Lagae L, Perucca E, Trinka E, Dlugos D. Call for the use of the ILAE terminology for seizures and epilepsies by health care professionals and regulatory agencies to benefit patients and caregivers. Epilepsia. 2024;65(2):283-286. doi: 10.1111/epi.17868. Find the publication here |
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Vignatelli L, Tontini V, Meletti S, et al. Clinical practice guidelines on the management of status epilepticus in adults: A systematic review. Epilepsia. Published online April 12, 2024. doi:10.1111/epi.17982 Find the publication here |
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Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. J Neurol. 2024;271(2):835-840. Find the publication here |
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Papadopoulou M, Muccioli L, Bisulli F, Klotz KA, FonsC, Trivisano M, Kabulashvili T, Specchio N, Lesca G, Arzimanoglou A. Accessibility, availability, and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE. Epilepsia Open.2024 Mar 22. Find the publication here |
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Amin S, Møller RS, Aledo-Serrano A, Arzimanoglou A, Bager P, Jóźwiak S, et al. Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey. Epilepsia Open. 2024 Mar 7. Find the publication here |
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Hirsch, E., French, J., Scheffer, I. E., Bogacz, A., Alsaadi, T., Sperling, M. R., Abdulla, F., Zuberi, S. M., Trinka, E., Specchio, N., Somerville, E., Samia, P., Riney, K., Nabbout, R., Jain, S., Wilmshurst, J. M., Auvin, S., Wiebe, S., Perucca, E., Moshé, S. L., … Wirrell, E. C. (2022). ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 10.1111/epi.17236. Advance online publication. Find the publication here |
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Zuberi, S. M., Wirrell, E., Yozawitz, E., Wilmshurst, J. M., Specchio, N., Riney, K., Pressler, R., Auvin, S., Samia, P., Hirsch, E., Galicchio, S., Triki, C., Snead, O. C., Wiebe, S., Cross, J. H., Tinuper, P., Scheffer, I. E., Perucca, E., Moshé, S. L., & Nabbout, R. (2022). ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 10.1111/epi.17239. Advance online publication. https://doi.org/10.1111/epi.17239 Find the publication here |
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Wirrell, E. C., Nabbout, R., Scheffer, I. E., Alsaadi, T., Bogacz, A., French, J. A., Hirsch, E., Jain, S., Kaneko, S., Riney, K., Samia, P., Snead, O. C., Somerville, E., Specchio, N., Trinka, E., Zuberi, S. M., Balestrini, S., Wiebe, S., Cross, J. H., Perucca, E., … Tinuper, P. (2022). Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia, 10.1111/epi.17237. Advance online publication. Find the publication here |
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Specchio, N., Wirrell, E. C., Scheffer, I. E., Nabbout, R., Riney, K., Samia, P., Guerreiro, M., Gwer, S., Zuberi, S. M., Wilmshurst, J. M., Yozawitz, E., Pressler, R., Hirsch, E., Wiebe, S., Cross, H. J., Perucca, E., Moshé, S. L., Tinuper, P., & Auvin, S. (2022). International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia, 10.1111/epi.17241. Advance online publication. Find the publication here |
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Riney, K., Bogacz, A., Somerville, E., Hirsch, E., Nabbout, R., Scheffer, I. E., Zuberi, S. M., Alsaadi, T., Jain, S., French, J., Specchio, N., Trinka, E., Wiebe, S., Auvin, S., Cabral-Lim, L., Naidoo, A., Perucca, E., Moshé, S. L., Wirrell, E. C., & Tinuper, P. (2022). International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 10.1111/epi.17240. Advance online publication. Find the publication here |
