Scientific publications

Find here scientific publications written by EpiCARE members

On this page, we list all scientificul publications written by EpiCARE members related to the diagnostic and treatment of rare and complex epilepsies.

For now, there are 3 categories : epilepsy surgery related publications, ILAE position papers on the classification and definition of epilepsy syndromes and other publications. Publication in open-access can be downloaded.

Scroll down to see the other categories, and do not hesitate to use the search box to look for a specific paper or author.

Epilepsy surgery related publications
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
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.
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.
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."
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.”
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.”
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.”
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.”
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.”
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 on the classification and definition of epilepsy syndromes
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
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
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
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
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
Other publications
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,
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,
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.
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.
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.
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.
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.
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.
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.
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.
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.
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).
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).
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.”
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.
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”.
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”.
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.“
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.
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
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
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
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.
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.