EpiCARE Working Groups
EpiCARE’s core programme is detailed in a work plan, submitted to the European Commission for evaluation each time a new Grant Application for the funding of the management of the ERNs is launched (2017; 2022; 2023). The ongoing management grant covers the period October 2023-September 2027.
You can find out more about EpiCARE’s core programme exploring the different Working Group activities below (click on the + sign to develop the section).
You can also upload the regularly updated information booklet.
Best practices in epilepsy care
Summary
Increasingly genetic, autoimmune and metabolic epilepsies are being recognised although few characteristic epilepsy phenotypes have been identified (i.e. PCDH19, SCN1A, NMDA encephalitis, GLUT1 deficiency) that permit prediction of which aetiology is likely involved. Progressive refinement of the phenotype will reduce the number of patients who require molecular genetics, for diagnostic purposes (with consequent financial impact, particularly for patients with poor social coverage). Neural autoantibody testing and metabolic testing can be also more targeted. Refining phenotypes requires that specific features (seizure, EEG, MRI characteristics, cognitive profile, psychiatric, movement and other possible comorbidities,) are identified accurately by physicians with appropriate expertise. Knowledge of these additional symptoms and their prediction may permit actions to reduce their impact. For given conditions, few experts have devoted time on the identification of the phenotype. Experts need to be identified from within the network so that they may contribute to this phenotypic refinement. The identification of aetiological groups throughout the EU will be able to provide appropriate genetic, metabolic and immune testing to a wider population.
With the contribution of experts this WG contributes to a full revision of the Orphacodes summaries.
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Leaders
Objectives
- To refine the clinical/EEG phenotype with genotype correlation (characteristics of the epilepsy, including age and mode of onset and course, type of cognitive disorders, minimum features necessary for the diagnosis – in which cases genotyping is mandatory)
- To optimize the genetic and biochemical work-up to save resources when possible, and complete with functional validation if needed
- Identify groups providing next generation sequencing and new gene identification
- Identify expert groups able to provide genetic evaluation and diagnosis
- To refine the clinical/EEG phenotype with autoimmune aetiology correlation (characteristics of the epilepsy, including age and mode of onset and course, type of comorbid disorders)
- Identify expert groups able to provide neural antibody testing/autoimmune disease evaluation and diagnosis
- Revision of Orphacodes
Neuroimaging
Neuroimaging investigations are fundamental in the diagnosis of patients with epilepsy, in identification of etiology of epilepsy and in selected cases for surgical planning. In recent years, there have been tremendous advances in the availability and acquisition of structural MRI, functional MRI, PET and SPECT imaging. Furthermore, advanced post-processing methods and machine-learning algorithms have been applied to neuroimaging data in patients with epilepsy. This working group aims to promote harmonisation of best practices in neuroimaging evaluation of rare and complex epilepsies to enable and ensure state-of-the-art care across EpiCARE. We have a group of radiologists and neuroimaging post-processing experts from across the EpiCARE network who meet to share best practice and create recommendations. We also organise EpiCARE webinars on neuroimaging in rare and complex epilepsies. We are currently planning post-processing workshops to improve the technical neuroimaging skills of EU professionals involved in the management of rare and complex epilepsies. This will facilitate the use of state-of-the-art neuroimaging post-processing tools as research adjuncts for surgical evaluation of epilepsy patients as well as facilitating the participation of EU centres in multi-centre research projects (such as ENIGMA -Epilepsy and the MELD Project).
Please find here the results of the Neuroimaging survey on MRI protocols and other neuroimaging methods in EpiCARE centres, and the Summary of recommendations for neuroimaging in epilepsy in general, and in specific patient populations.
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Leaders
Objectives
- Contribute and promote harmonisation of best practices in neuroimaging evaluation of rare and complex epilepsies
Neuropsychology
Summary
Our WG aims to improve the assessment of cognitive and behavioural comorbidities at disease onset and along the disease course (e.g., treatment-related changes, the impact of epileptic dysfunction, developmental hindrance, mental decline, etc.). Neuropsychology can also serve as a differential diagnostic indicator of epilepsy subtypes and syndromes when related to imaging, electrophysiology, pathology, and genetics data. It allows monitoring of disease dynamics and can be used for outcome and quality control of treatments. Composed of both adult and paediatric neuropsychologists, we focus on work in Special Interest Groups, open to those interested to lead them or contribute focusing, between others, on: Patient-centred outcome measures; uniform reporting and neuropsychological data collection; EEG-logged assessment of cognition; Psychosocial consequences of late-onset epilepsies; Epilepsy with continuous spike-wave during slow-wave sleep; Right cerebral hemisphere and Autism Spectrum Disorders; Cognitive outcome of preschool children after epilepsy surgery; Transition from childhood to adulthood. We lead regular sessions of case presentations to share knowledge on best practices in neuropsychological evaluation and contribute to surgical and non-surgical case discussions. We closely collaborate with WG 18 on challenges “beyond seizures”.
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Leaders
Objectives
- Set up of a common evidence based diagnostic toolbox for assessing and monitoring behavioural comorbidities of the epilepsies
- Set up of a registry for cognitive and behavioural comorbidities in epilepsy across European epilepsy centres
- Discerning differential diagnostic and prognostic criteria for different disease conditions in epilepsy from the beginning of the disease and along its natural course
- Outcome and quality control of different treatment options
- Development of new therapeutic or prophylactic approaches to behavioural comorbidities in epilepsy
Clinical Neurophysiology
Summary
Clinical Neurophysiology methods, especially EEG, provide valuable information for diagnosing the epilepsies, with specific patterns identified in many diseases requiring expert interpretation. Experience and expertise in clinical neurophysiology are required to recognise the advantage of accurate recording and interpretation. We are focusing on practices and development of tools that integrate recent advances into EpiCARE centres and National Reference Networks.
SCORE is a computer-based system for EEG assessment and reporting, which reduces the inter-observer agreement in EEG interpretation and is based on a consensus proposal by a group of European experts endorsed by the International League Against Epilepsy (European region) and the European Chapter of the International Federation of Clinical Neurophysiology (EC-IFCN). During the development process, SCORE was tested and adjusted by applying it to real, clinical data. Since the last reporting, we have published a paper on seizure-duration, based on the large SCORE dataset (Meritam et al., Epilepsia 2023). An inter-rater agreement on periodic and rhythmic EEG patterns using SCORE is currently ongoing in several EpiCARE Centres. The inter-rater agreement is intended as a means of standardizing the recognition of these difficult-to-interpret patterns and improving the management of these challenging entities.
Nearly 300 EEGs have been collected, which will allow determining inter-rater agreement with higher numbers than previous studies in the literature, using a highly standardized program for the detection and classification of EEGs (SCORE). Future developments of the project are I discussion within the working group, including the possibility to consider the EEG material collected for educational purposes – to be developed and disseminated through EpiCARE.
PROMAESIS This is the acronym for Prospective Multicenter-study on Automated EEG Source Imaging in epilepsy Surgery (NCT04218812). The data collection phase (n=392) has been completed, and all EEGs have been analyzed (Epilog & BESA). The pre-surgical clinical data have been collected and currently we are waiting for the CRFs on the 1- year postoperative outcomes. The postoperative data are currently streaming in. One side-project on the automated / semi-automated detection of IEDs and the effect of spatial sampling has been published in July 2022 (Heers et al., Epilepsia 2022).
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Leaders
Objectives
- Development of a web-based platform for secure exchange and storage of neurophysiological data, integrated with the databases of other work-packages
- Integration of SCORE into EpiCARE
- Validation of automated EEG source imaging in presurgical evaluation of patients with drug resistant focal epilepsy
Neuropathology
Summary
Microscopic tissue diagnosis of human brain disorders remains the gold standard in modern medicine. Yet, histopathology training in epileptic disorders is difficult to obtain in many European countries. EpiCare offers, therefore, a comprehensive neuropathology service for all of their members. Currently, our Workgroup addresses three activities:
1) The European Epilepsy Brain Bank is an EU-FP6/FP7 funded project collecting more than 10.000 histopathology diagnosis obtained from epilepsy surgery. This unprecedented dataset can be used for benchmark projects on disease etiologies, outcome and pathomechanisms.
2) We also offer a second diagnostic look to surgical brain samples obtained from epilepsy surgery using standardized protocols. Formalin-fixed and paraffin-embedded tissue specimens should be send to the neuropathology laboratory in Erlangen, Germany (see address below).
3) Finally, we offer an interactive, online post-surgical case-conference to discuss surgical brain specimens from various European epilepsy surgery centers. For further information, see sections below.
EU-FP6/FP7 funded European Epilepsy Brain Bank
The European Epilepsy Brain Bank (EEBB) has enrolled more than 10.000 epilepsy surgery patients from 36 centers in 14 European countries (Blümcke et al. 2017; Lamberink et al. 2020). EEBB is a virtual database collecting a minimal data set for each (double-encoded) patient, e.g. age at epilepsy surgery, age at seizure onset, sex, location of the epileptic lesion, year of surgery, 12-24-60 month postsurgical outcome, antiseizure medication). This unprecedented databank is used for benchmark projects on disease etiologies in focal epilepsy (Blümcke et al. 2017) and post-surgical outcome (Lamberink et al. 2020). Tissue storage will help to enable future research projects, in particular addressing genetic causes of focal brain lesions and epileptogenicity.
Neuropathology service for microscopic brain tissue review
Members of this workgroup offer the large experience in standardized neuropathological examination, i.e. establishing ILAE guidelines and classification systems. All tissue specimens will remain the courtesy of submitting centers and returned upon completion of the analysis. Guidelines for standardized tissue fixation, long-term preservation and storage have previously been published and can be downloaded through this website (Blümcke et al. 2016). Formalin-fixed and paraffin-embedded tissue specimens should be send for microscopic review to the postal address below.
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Members
Homa Adle-Biassette, Paris
Eleonora Aronica, Amsterdam
Annmaria Buccoliero, Florence
Albert Becker, Bonn
Rita Garbelli, Milano
Kristof Egervari, Geneva
Maria Thom, London
Toumas Rauramaa, Kupio
Thomas Olsson Bontell, Gothenburg
Thomas Jacques, London
Leaders
Post-surgical case discussion
We offer a monthly online discussion forum for post-surgical patients in order to review the histopathology findings. The post-surgical discussion forum is targeted for clinicians, neurosurgeons and histopathologists. Each case will be presented with the patient’s clinical history and surgical procedure. The microscopy findings will be reviewed live using our digital microscopy platform. The discussion of differential diagnosis and postsurgical outcome will conclude each case presentation. If you are interested to join this forum, or present a case please email to bluemcke@uk-erlangen.de.
For patient presentation, we request to obtain the patient consent using the standardized EU form.
Summary
For many of the rare and complex epilepsies, approved and evidence-based treatments do not exist. Thus, there is an urgent need to support high quality evidence of clinical studies and to identify and develop novel treatments targeting specific aetiologies.
Recognition of the epilepsies as a group of rare diseases with known aetiologies give us insight as to the underlying mechanisms involved in both development of seizure-generating networks, as well as comorbidities such as cognitive, physical, emotional and behavioural disturbances.
To improve study designs and choice of relevant interventions, there is a need to collect standardized data on outcomes associated with specific treatments such as anti-seizure medications, repurposed drugs targeting underlying mechanisms, disease-modifying treatments (including immunosuppression, treatments targeting protein and gene expression), and non- pharmacological treatments (such as diets, neurostimulation, and surgical therapies) or interventions (cognitive, behavioural and physical therapies) in people with rare and complex epilepsy.
The goals of this workgroup are to support and review initiatives in identifying unmet needs, study development and designs, provide expertise by contributing to activities of the European Consortium for Epilepsy Trials (ECET), disseminate these initiatives and study results. We also contribute to educational initiatives to improve the knowledge of novel trial designs, analysis, and outcome measures.
To foster advancements, special interest groups (SIG) for specific epilepsies (e.g. autoimmune epilepsies, tuberous sclerosis, etc), and with focus in specific aspects of trial design (e.g. n-of 1- methodology, use of PCOMs etc.) were established to identify the needs of an entity to enable conduction and ultimately performance of clinical trials. Do not hesitate to contact us if you wish to contribute to the initiation of a SIG on other topics.
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
New Tool to Support EpiCARE Members with Clinical Trial Submissions in the CTIS
he Working Group on Clinical Trials & Targeted Therapies, coordinated by Floor Jansen, Rainer Surges and Valentina De Giorgis, has developed a new tool to assist ERN EpiCARE members in submitting clinical trials through the Clinical Trial Information System (CTIS), the single point of entry for all clinical trials conducted within the European Union. We recognize that many investigators across the EU often face the challenge of submitting their trials to regulatory authorities on their own. To better support you, we have created these guidelines to streamline the process and provide clear, practical assistance.
Ongoing Special Interest Group
If you wish to contribute to the work of a SIG or propose the creation of a new one, please use the contact form.
Leaders
Objectives
- To promote and facilitate the development of better treatments or interventions, possibly in the context of clinical trials for people with epilepsy
- To support and make newly undertaken academic treatment and intervention trials, designed in EpiCare accredited centers.
- To provide advice and professional expertise to any party involved in the conduction of academic clinical trials in epilepsy and related disorders, regarding trial design, statistical analysis, outcome measures including patient centered outcome measures (PCOM), regulatory and ethical aspects, in order to improve the quality and implementation of the results.
- To develop educational activities to empower parties with the knowledge necessary to develop and design clinical trials and studies with targeted treatments.
- To facilitate implementation of high quality evidence from clinical trials in daily clinical care by creation of clinical recommendations for targeted treatments.
- To support the activities of the European Consortium of Epilepsy Trials.
Summary
Surgery is now long established as standard management of carefully selected patients with focal epilepsy. There are many aspects, however, that can be particularly challenging and deserve special consideration in the evaluation for surgery and planning of surgical strategy.
The EpiCARE WG, dedicated to pre-surgical evaluation procedures and epilepsy surgery, integrated, in 2017, a pre-existing pilot network, E-pilepsy, co-funded by the EU. E-pilepsy has been operating since January 2014, under the leadership of Prs. Helen Cross (UK) and Philippe Ryvlin (Switzerland), progressively involving 52 centers. It has provided a large number of publications and sustained activities that have been consolidated and further developed in EpiCARE (1).
In collaboration with the ILAE Pediatric Epilepsy Surgery Task Force the network proposed criteria for paediatric epilepsy surgery center levels of care (Gaillard et al, 2020).
Epilepsy-surgery in appropriately evaluated patients is seen to be effective over a wide age range, and over a spectrum of clinical presentations and pathologies (Sanders et al 2024). Furthermore, the likely impact that can result from early evaluation and surgery with resulting seizure control suggest that patients, especially children, should be referred and assessed early in their clinical course (Baud et al 2018; Barba et al 2020).
The members of this WG contribute to:
– Regular e-care visioconferences and face-to-face sessions (U-Task) led by experts, to discuss best practices in pre-surgical evaluation; epilepsy-surgery indications; results of surgery, both successes and failures. The case discussions are also of high educational value and are open to all EpiCARE members.
– IT platform: it allowed each EpiCARE centre to get access and use sophisticated neuroimaging and EEG postprocessing tools (e.g. Curry8).
– Epilepsy Surgery REDCap eCRF: This comprehensive eCRF aimed at collecting all relevant data from patients undergoing presurgical evaluation and epilepsy surgery. Its regular use by the centres will allow collection of comparable data on the natural history of focal epilepsies per aetiology, both retrospectively and prospectively.
– The CogniEEG project: EpiCARE centres are core members of the CogniEEG project which aims at leveraging cognitive research performed in patients with epilepsy undergoing intracerebral EEG recordings (iEEG). It is expected that all data collected through the above activities will progressively populate th EpiCARE Registry, thus facilitating the design and performance of academic studies related to epilepsy-surgery needs and outcomes.
Members of the WG are active participants to the just launched process for Guidelines on pre-surgical evaluation; epilepsy-surgery; and invasive neuromodulation.
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Leaders
Objectives
- Consolidate and continue the E-pilepsy pilot network of cooperation in epilepsy surgery
- Expand the number and participants to the E-Care visioconferences on epilepsy surgery,
- Further develop the IT platform devoted to pre-surgical post-processing and visioconferences.
- Promote the dissemination and use of the E-Database devoted to epilepsy surgery
- Contribute to the production of guidelines on pre-surgical evaluation, epilepsy-surgery, and invasive neuromodulation.
(1) Only some centers of the E-pilepsy network can offer comprehensive epilepsy care for all types of epilepsy and for all ages, corresponding to EpiCARE eligibility criteria for a membership accreditation by the European Commission. However, despite this administrative limitation, we considered it essential to continue the cooperation with all those e-pilepsy centers wishing to voluntarily contribute to the production of guidelines, state-of-the-art methodologies and web-based tools which help increase the effectiveness and safety of pre-surgical evaluation and epilepsy surgery. Epilepsy surgery is a highly complex process and, compared to the patient needs, rare are the medical teams with an established expertise.
Summary
Neonatal seizures are a major diagnostic challenge for clinicians because clinical presentations can be very subtle. In contrast to seizures in older children, EEG monitoring is essential to accurately detect ongoing seizures in neonates given the high frequency of electrographic- only seizures and their variable clinical expression. EEG monitoring needs to be available 24 hours a day in neonatal intensive care units for optimal surveillance, which is challenging. Many units in Europe therefore use amplitude integrated EEG (aEEG), which is less accurate in detecting seizures. Accurate seizure detection is essential for appropriate and prompt treatment and for randomised trials of new treatments.
Our WG began work on a protocol for neonatal EEG monitoring and reviewed all the published protocols at the same time as the Italian Neonatal Seizure Collaborative Network (INNESCO) worked, with contribution from EpiCARE members, on a comprehensive protocol (Dilena et al 2021), which was adopted by EpiCARE.
The ILAE have recently published guidelines and consensus-based recommendations for the diagnosis and treatment of seizures (Pressler et al 2021; Pressler et al 2023) in the neonate, which have been developed with the contribution of members of the EpiCARE neonatal WG.
The WG also:
– developed a free neonatal EEG eLearning module to help centres across Europe get EEG monitoring up and running, to recognise the common neonatal seizure types and to distinguish them from common artefacts encountered in the NICU.
– is working on the development of a Neonatal Seizures Registry with a multicentre open cohort design that includes acute symptomatic seizures and neonatal-onset epilepsies, the results of diagnostic biochemical, MRI and genetic tests, together with the aetiologies. In the next phase, we will assess if this real-world data can be used to promote collaborative research across Europe.
– will also assess neonatal EEG and seizure AI algorithms and develop guidelines for their use in neonatal EEG monitoring but also in clinical trials of new treatments.
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Leaders
Dr. Ronit Pressler
London, UK
Pr. Carmen Fons
Barcelona, Spain
Objectives
- To establish a European neonatal seizures expert group
- To provide guidelines for EEG monitoring in neonates with acute seizures and epilepsies across Europe
- To scale up the neonatal EEG remote monitoring platform (Babylink) for use across Europe
- To develop management guidelines and treatment protocols for neonatal seizures
- To define and implement standardised outcomes of neonatal seizures that can be applied across EpiCARE
- To provide a web base educational toolkit for neonatal seizures and epilepsies specifically for health professionals, families and public interest groups
- To establish a neonatal seizure registry in Europe and promote collaborative research
Healthcare & research policies
Summary
Strengthening the links between EpiCARE and existing, or under development, national epilepsy networks and pathways for optimal epilepsy care is one of our priorities.
The governance structure of ERN EpiCARE that facilitates, pooling and sharing knowledge, fostering research and innovation, as well as the discussion on rare or low prevalence complex epilepsies is now in place. To reap all benefits for patients, effective mechanisms to connect EpiCARE medical teams with national health systems need to be developed. The National Networks WG aim is to reinforce building national/regional epilepsy care pathways to ensure timely referral to the right level of care, systematic follow-up, awareness of treatment options and self- care, good communication between the different actors and flexible consultation possibilities including national case discussions before referring the case to the ERN-level discussions. National networks need also to include peer support to reinforce care and a service plan, where appropriate. Our upcoming tasks are:
- to complete the mapping of the current situation of national epilepsy care pathways in EU countries and to provide a thorough analysis of the mapped pathways to identify strengths, weaknesses, gaps, and opportunities for building better epilepsy care pathways;
- to harmonize minimum requirements for level 3 and 4 epilepsy centres within the EU; via systematic literature review and Delphi process among EpiCARE ERN members;
- to reinforce national and regional activities to link EpiCARE ERN to the national health care systems serving epilepsy patients.
Our actions also take into consideration the ILAE-IBE recommendations for an integrated approach to «epilepsy and other neurological disorders» (WHO iGAP) and contribute to actions taken at the level of the EU member states, within the frame of the Direct-Action grant, JARDIN, funded by the Commission.
Leaders
Objectives
- Strengthen the links between EpiCARE accredited centres and existing, or under development, national epilepsy networks within the EU and pathways for optimal epilepsy care.
EpiREG Research
Summary
The creation of a centralized registry between EpiCARE accredited centres is one of the main deliverables requested (from all 24 ERNs) and funded by the European Commission. Since the creation of EpiCARE, in 2017, several steps were taken towards such an aim, including the identification of already existing registries and/or databases (the latter usually linked to funded research projects). Notable examples of organizations with rather well-developed databases are the Dravet Syndrome European Federation, and Tuberous Sclerosis.
The next step was to analyse the current needs of the epilepsy community (clinicians, researchers, patients), evaluate available resources and put needs into equation with available means.
Under the leadership of the Leuven EpiCARE centre KUL (co-beneficiary of the 2023-27 management granted funded by the EU) the EpiREG workgroup includes a multidisciplinary panel of epilepsy specialists, a qualified Data Manager, as well as patient representatives and IT specialists (a subcontracted company, BIOMERIS).
From a scientific point of view a clear distinction was made from onset between a “Registry” and a “Database”. The ERN EpiCARE decided to create a simple and user-friendly tool, including the EU defined Common Data Elements (eg demographics, ORPHANET codes) and specific epilepsy items, focusing on aetiology. The aetiological categories respect the ILAE classification: genetic, structural, immune, inflammatory, metabolic and unknown background parameters. EpiREG’s main aim is to allow, whenever needed, an easy identification of those EpiCARE centres, that follow patients with each of the rare and complex epilepsies.
For exclusively administrative reasons*, independent of our wish, the EpiREG template is currently being implemented as a local tool in all EpiCARE centres – an obligation for all EpiCARE members, full or affiliated- on a dedicated REDCap platform.
Pseudonymisation with the SPIDER software will soon allow to eventually congregate all EpiCARE local registries within one central server. At that point dedicated clinical research questions can be supported with our registry data. It will soon be possible to link to our main Registry, sub-registries, or detailed databases, funded by academic research projects and developed for specific projects (eg. Neuropsychology; Neonatal epilepsies; TuberousSclerosisComplex; …).
The Registry template content produced by EpiCARE can be offered, upon request, to all other epilepsy centres wishing to homogenize the collection of essential data in their respective Institutions.
Developing a Registry for rare and complex epilepsies is a very dynamic process, with continuous challenges and needs to update and refine the content. We are confident that its creation will offer the EU epilepsy community a unique tool to support both clinical practice and research.
EpiREG workgroup
- Registry lead: Lieven Lagae (Leuven, Belgium)
- Registry Co. lead: Helen Cross (London, UK)
- EpiCARE Project Managers: Johanna Van Hulle (Leuven, Belgium), Nicola Openshaw-Lawrence (London, UK)
- ePAG Representatives: Rosaria Vavassori (IAHCRC), Maryse Arendt
- BIOMERIS: Matteo Gabetta (Italy), Anna Alloni (Italy)
For more information, click here for more details on the EpiCARE Registry Project.
*We are fully aware of the difficulties encountered by the medical teams, usually due to legal issues and/or lack of support from their respective Institutions. Indeed, many hospital administrations interpret the creation of an across the EU Registry for Rare Diseases as a research project per se, which is definitely not the case. The issue becomes even more complex, due to the diversity and autonomy of national health systems when the discussions concern data sharing. Our WG will contribute to the procedures to be initiated within Direct Action grant to member states, JARDIN, aiming at the development of recommendations for national RD data governance models that will be interoperable with the ERN registries and CPMS.
Leaders
Objectives
- Identification of exiting databases / registries for rare and complex epilepsies
- Linking of databases / registries
- Building E-database with key clinical features
Guidelines and Recommendations
Summary
The WG on Guidelines and Recommendations involves several EpiCARE members from different countries and is organized in topic-related Task Forces. The approach is part of the EpiCARE policy to always involve to each of our activities the maximum of available expert clinicians, members or not of an accredited EpiCARE team, and patient advocates. Its objectives are quality assessment of existing guidelines for rare and complex epilepsies; identification of the areas where development of epilepsy guidelines are required; development of new guidelines when needed; evaluation of the dissemination and implementation of guidelines across Europe. Indeed, the most challenging issue when dealing with Guidelines and Clinical Recommendations is their implementation in each of the EU countries, a real healthcare policy issue.
All developments follow the rules of the GRADE Methodology (Grading of Recommendations Assessment, Development and Evaluation), which uses the best available evidence along with expert opinion and patient representatives to develop explicit criteria to guide clinical care.
To ensure contribution from all available experts a Memorandum of Understanding was signed between EpiCARE, the European-based scientific societies (EAN and EPNS) and the ILAE.
Following a large survey to identify areas where development of guidelines is needed, the following are already in the pipeline:
- Pharmacological and non-pharmacological interventions in the treatment of:
– Lennox-Gastaut syndrome
– Infantile Epileptic Spasms syndrome
– Dravet Syndrome
- Pharmacological treatment of status epilepticus in adults
- Guidelines for presurgical evaluation and surgical treatment of patients with complex and drug-resistant epilepsies, divided into 3 sections: pre-surgical evaluation; epilepsy surgery proper; invasive neuromodulation.
Under the leadership of the EpiCARE Salzburg centre (co-beneficiary of the 2023-2027 management grant funded by the EU) the WG is composed by discipline/content experts, a neurologist-methodologist (Dr Teia Kobulashvili) and, when needed, statisticians and information specialists. We also work in close collaboration with the Cochrane epilepsy group.
Leaders
Pr. Eugen Trinka
Salzburg, Austria
Dr. Teia Kobulashvili
Salzburg, Austria
Objectives
- Identify international epilepsy clinical care guidelines and assess their quality by using a systematic methodology.
- Produce Guidelines and Clinical Recommendations is partnership with the International League Against Epilepsy (ILAE), the European Academy of Neurology (EAN) and the European Paediatric Neurology Society (EPNS).
- Support the Patient Advocates Group in the production of Leaflets and Patient Journeys.
A considerable number of educational activities and tools are already available in most EU countries, the result of either individual academic initiatives or as part of programs developed by the scientific societies (ILAE, EPNS, EAN) developed by experts from the participating centres.. What is still challenging, due to the great variety of “end-users” in the field, is the development of learning goals, preferably per “end-user”, and the establishment of priorities.
EpiCARE is an EU reference network of all disciplines involved in epilepsy care for rare and complex epilepsies. For general and specialized training in epileptology we fully adhere to the “Roadmap for a competency-based educational curriculum”, developed by the International League Against Epilepsy. In parallel, as part of a reference network of Health Care Providers for rare and complex epilepsies, the first goal of the present Working Group is to develop educational practices favouring dissemination of highly specialized knowledge and expertise within the members of the ERN and beyond, to operationalise complementarity.
With the generous contribution of experts in the corresponding fields, we developed a program of educational webinars. They offer comprehensive state-of-the-art reviews, accessible to all free of charge. At first presentation, all our webinars also offer a “meet the expert” opportunity during a live Q&A part.
Supported by a European Commission CEF Telecom program (2018 and 2021) we are also developing, in close collaboration with the ILAE Academy, a series of patient-centred interactive e-learning modules. Each of them offers a comprehensive diagnostic and therapeutic, state-of-the-art knowledge and interactive training.
Our Clinical Case Discussion weekly sessions, strictly reserved for confidentiality reasons to pre-registered health care professionals, are another source of education.
EpiCARE members regularly contribute to “Seminars in Epileptology” review manuscripts, published by the ILAE educational journal Epileptic Disorders.
Finally, HCPs members of the ERN EpiCARE in close collaboration with our Patient Advocacy Groups, regularly develop and disseminate leaflets for caregivers and patients with rare epilepsies and comprehensive patient’s journeys descriptions.
Training in clinical epileptology and related disciplines requires the physical presence of young clinicians and researchers at epilepsy reference centres. All ERN EpiCARE members and collaborating partners offer training possibilities. They can be directly contacted by those interested.
We are also partnering the Mobility Program developed and funded by the European Commission. Considering the major role of epilepsy nurses and epilepsy monitoring unit nurses we support short exchange programs between HCPs members of EpiCARE. AN EpiCARE Task Force is currently focusing upon the development of training guidelines for paramedics in epilepsy departments.
The ERN EpiCARE is one of the 3 pilot ERNs, missioned to contribute to the future development of an ERN ACADEMY and an active member of the ERNs Knowledge Generation Working Group, focusing upon the development of a joint strategy of the ERNs for training and education to overcome the gap between the increasing awareness on rare and complex diseases and the lack of a specific training in the medical curricula.
Leaders
Active members:
Arzimanoglou Alexis, France
Ingmar Blümcke, Germany (ILAE Academy Liaison)
Jansen Floor, The Netherlands
Kalviainen Reetta, Finland
Kobulashvili Teia, Austria (Liaison Guidelines WP)
Lagae Lieven, Belgium
Lesca Gaetan, France
Liakina Tatjana, Lithuania
Malenika Masa, Croatia
Openshaw-Lawrence Nicola, UK (Epilepsy Nurse liaison)
Papadopoulou Marietta, Greece
Pressler Ronit, UK (Liaison, Neonatal WP)
Specchio Nicola, Italy
Toulouse Joseph, France
Vigevano Federico, Italy
Zuberi Sameer, UK
Genetic research in the field of epilepsies is confronted with an extremely large number of new genes, for which the clinical spectrum and/or natural history is often barely known; usually, the number of patients published is limited to a handful, their recruitment may be strongly biased towards a few clinical features, and their clinical description is often limited.
In a joint effort to promote genetic research, members and non-members of EpiCARE, conveyed into this WG, together with the one on Clinical Genetics, the knowledge and opportunities that have derived by their participation as active members to major concluded and existing EU research networks on epilepsy research in genetics and rare epileptic encephalopathies, which include:
- the FP7 project ‘DESIRE’ (Development and Epilepsy – Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy- grant agreement no. 602531), has provided important contributions to the study of complex and rare epileptic encephalopathies and has collected DNA and brain tissue samples (Pitkänen et al 2019; Blumcke et al 2017), cohorts with rare syndromes, organized databases and clinical trials;
- the Epicluster initiative (Henshall et al 2023) of the European Brain Research Area (EBRA), which is subserving a collaborative framework for the coordinated actions of epilepsy research in Europe, based around shared partnerships and research priorities;
- the Neuro-MIG European Network on Brain Malformations (CA16118 Funded by the European Cooperation in Science and Technology Action – COST), which has created a powerful international network dedicated to the Genetic diagnosis and management of brain malformations;
- the Rare Epilepsy Syndromes (RES) consortium.
To boost the genetic research activities, the ERN EpiCARE contributed to the development of a web-platform for patients’ matchmaking, interoperable with other discovery services, based on the RD-NEXUS tool, and provided by the European Joint Project in Rare Disease (EJPRD) to support the wider European Reference Network (ERN) community. This approach, which has been developed by Dr. Davide Mei at Meyer Hospital in Florence with the support of Prof. Anthony Brooks of the University of Leicester, will make the patient’s metadata and core data queryable by the users, thus allowing the discovery of relevant clusters homogeneous for clinical and/or genetic features.
The WG also contributed to the creation of a collaborative genetic research platform, with the aim of recruiting European series of patients carrying variants in already known genes, for which we have rather limited knowledge that need to be expanded.
Both the above platforms are public and open to all, independently of their status of membership or not to the ERN EpiCARE, thus offering a unique opportunity to smaller medical teams to contribute.
ERN-EpiCARE has joined, as an associated ERN to Solve-RD, a Horizon2020-funded project, dedicated to “solve the unsolved rare diseases”. This will permit the re-analysis of unsolved exomes and genomes of patients with rare developmental and epileptic encephalopathy (DEE) or other rare epilepsy syndromes. EpiCARE is also partner to the recently launched European Rare Diseases Research Alliance 2024-2034 (ERDERA) project, co-funded by the EU.
The WG is represented at the EpiCARE Research Council by Pr. R. Guerrini. Members of the WG also regularly contribute to educational webinars focusing on genetic epilepsies, organized by the Education and Training WG. The presentations systematically combine a clinician and a geneticist. When appropriate a patient advocate in also involved. A “training in genetics of the epilepsies” workshop is under preparation.
Leaders
Pr. Gaétan Lesca
Lyon, France
Pr. Renzo Guerrini
Florence, Italy
Summary
Case discussions are an integral part of all ERNs and are in line with the European Commission’s Directive. The members of this WG are working to increase attendance and participation in such case discussions and to identify areas within the rare and complex epilepsy field that would benefit from these multi-disciplinary discussions. Currently we have at least 3 regular sessions per month: for both potentially surgical cases and/or surgical successes or failures, as well as for non-surgical cases. We also support sessions organized by other EpiCARE WGs bringing together experts in neuropathology, neuropsychology, neuroimaging and genetics.
Most of these discussions utilise the Clinical Patient Management System (CPMS) which is an online secure and encrypted platform that allows for free-flowing discussion amongst experts, enabling complex patient cases to have multi expert input and therefore optimise the care and treatment of rare and complex epilepsy patients. When necessary (ex. complexity of the tools to be used such as streaming of Video-EEG monitoring) other secured platforms may be used. Because the epilepsies often require a multidisciplinary approach we also privilege face-to-face meetings, organized by EpiCARE members (ex. U-Task meeting twice a year; Stereo-EEG course; EPIPED and Tagliacozzo courses, endorsed by ILAE-Europe).
EpiCARE considers that case discussions also have a high educational value. Young epileptologists are encouraged to present cases under the mentorship of their respective EpiCARE mentors.
As detailed elsewhere, for a case to be discussed at the level of the whole ERN network, the patient must first be investigated by an accredited reference centre, in collaboration with the patient’s treating physicians. This is the main reason why EpiCARE strongly supports the need for national reference networks, in proximity to the patient’s domiciliation. Indeed, because most of these case discussions take place remotely and because we are dealing with rare diseases – highly complex both in terms of diagnosis and treatment options – the data presented to a panel of experts has to be complete (state-of-the-art) and of excellent quality. Any other approach could lead to misinterpretation of the data and a misleading expertise, that could be detrimental to the patient.
Detailed information on how an EpiCARE member can submit a complex case for discussion or how to join a discussion as an expert or simply for educational purposes are provided: https://epi-care.eu/case-discussions-epicare/ . If you are interested to join one of our expert panels and/or be informed about sessions related to your field of expertise please use the contact form.
Leaders
Objectives
- Identify areas that would benefit from multi-disciplinary discussions
- Increase attendance and participation
- Shape the educational value of case discussion
Psychosocial issues, quality of life, patient perspectives (PROMS), sexuality, anti-seizures medication (ASM) adherence, transition of care from childhood, adolescence, epilepsy care challenges in the elderly and many others, are essential to a comprehensive care of the epilepsies, independently of age and seizure severity.
The main aim of this WG is to work on issues related to global epilepsy care. Such as:
- Comorbidities in general;
- Psychiatric, behavioural and emotional regulation issues;
- Sexual dysfunction;
- ASM adherence-issues;
- Lifestyle and seizure-precipitating factors;
- HRQOL-issues;
- Patient reported outcomes (PROMS).
- Social integration issues.
Following a survey on “Use of screening tools to assess comorbidities and adverse events in patients with epilepsy (Henning et al. 2022), this WG was initiated by a group of adult neurologists from Norway (M. Lossius , K. Åshild Alfstad, O.J. Henning), Denmark (G. Rubboli), Finland (R. Kälviäinen, J. Peltola) and Germany (Ch. Helmstaedter, H. Hamer, A. Schulze-Bonhage, B. Steinhoff). After the face-to-face 4th “In search of lost time” workshop, held in Rome (December 2023), the WG expanded to include child neurologists. They are expected, between others, to contribute to all challenges mentioned above and focus on issues related to intellectual disabilities, leaded by S. Jozwiak (Poland).
In 2024 a Special Interest Group (SIG) on Transition was also created, lead by V. De Giorgis (Italy) and M. Malenica (Croatia). A survey was launched, aiming to have a “photo” of the practices in EpiCARE centres and on how our members deal with transition from childhood to adolescence and adulthood of patients with:
– Epileptic & Developmental Encephalopathies;
– Drug-resistant Juvenile Myoclonic Epilepsy or focal idiopathic/LKS/CSWSS;
– Drug-resistant Focal Structural Epilepsies that could not benefit from surgery (following pre-surgical evaluation) or already operated on without a full control of seizures or persisting comorbidities.
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Leaders
Objectives
- Contribute to practices favouring a holistic approach in epilepsy care.
- Work on issues related to transition.
Epilepsy Nurses
Summary
Nurses and EEG technicians working at epilepsy monitoring units and/or for Neurophysiology, Neurology and Child Neurology Dpts. that care for patients with epilepsy are an essential partner of a multi-disciplinary team.
They are the ones who have an everyd SPATA5 in Rome second rounday contact with the patients and their families, perform the EEG (one of the most essential diagnostic tools), provide counselling on how to take anti-seizure medication or follow a ketogenic diet, administer rescue medications, test the patients during a seizure to better identify localization signs but also protect them from accidents, etc.
The WG was made a part of the ERN EpiCARE programme in late 2022. Its creation results from the successful exchange program (2020-22), funded by the management budget of EpiCARE, supporting nurses and EEG technicians working at EpiCARE centres to visit othe monitoring units. It was launched during a workshop held in Utrecht (06/23) at the EpiCaRE annual meeting, involving nurses and VEEG technicians working in the field of epilepsy care and epilepsy monitoring units.
76 nurses and EEG technicians from 20 countries sharing their experience.
The upcoming tasks are:
- Undertake a coordinated literature review of monitoring practices and the differences in units/centres in the EU.
- Compare and contrast monitoring practice guidelines from ERN EpiCare centres.
- Prepare a manuscript (for submission to an appropriate journal) with findings and recommendations.
- Produce a manuscript on the reasonings behind the launch of this WG and its benefits and aims.
- Assess the learning and practice needs of epilepsy nurses and EEG technicians
- working in Europe;
- Contribute to the development, and adapt to European standards and needs, of
- an education curriculum for epilepsy nurses and EEG technicians.
- Learn from each other and improve patient care.
The WG works in close collaboration with the Nursing section of the ILAE (www.ilae.org/nursing-section).
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
Be reassured, we do everything possible to reduce difficulties due to language barriers.
Teaching Video-Pills
Tips4EEG are short videos that illustrate the various aspects of performing a reliable standard EEG, from montages to activation procedures and some elements of polygraphy. It is useful for nurses and health care professionals, in order to provide the background information about the execution of the diagnostic test and its usefulness.
The videos are are also available in Italian on the LICE website.
Leaders
Patient Empowerment
Summary
Partnership between medical experts in rare and complex epilepsies with families and patients suffering from them is an important mission of EpiCARE.
European Patients Advocates (ePAGs) for epilepsy care are an independent body of patient representatives, who are either leaders in rare and complex epilepsy patient organisations from across Europe, or patients themselves. The group currently consists of 15 members (https://epi-care.eu/epicare-patient-representatives/), from various European countries representing different conditions. They are the voice of patients for EpiCARE, produce deliverables to support patients and their families, facilitate communication between patients and healthcare professionals. The patient empowerment working groups main mission is to better coordinate interactions between the patient advocates group and the EpiCARE medical teams by:
- Reinforcing the links between existing and under development federations and associations of patients with rare and/or complex epilepsies, the EU chapters of the International Bureau for Epilepsy (IBE) and the ERN EpiCARE community.
- Supporting the patient associations to better defend the need for national and EU plans for epilepsy care. This is of particular importance in the coming years – in a joint effort with EpiCARE and the European chapters of the ILAE and the IBE – aiming to adapt and implement in Europe the Intersectoral Global Action plan (iGAP) on «epilepsy and other neurological disorders (2022-2031) adopted by the WHO Assembly.
- Incorporating the voice of patients from the different EpiCARE WGs and collaborating to develop information, dissemination, guidelines, and support to research projects.
- Pursue, in collaboration with EpiCARE experts, with projects that increase disease knowledge for patients, families and non-expert treating physicians such as: Webinars, definition of Patients Journeys, Leaflets, and publications in scientific journals.
For more information visit our Patient Advocates (ePAG) webpage: https://epi-care.eu/epicare-patient-representatives/.
If you are interested to voluntarily contribute to this WG activities, please contact: epag.epicare@gmail.com or use the contact form to let us know.
Leaders
Isabella Brambilla
Patient representative
ePAG chair
Dravet Onlus, Italy
For more information, contact: helpdesk@epi-care.eu.
