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Publications

Journal Article Review Ahead of print

PubMed: 42161158 DOI: 10.1016/j.yebeh.2026.111112

Beyond seizures: proceedings of the ERN EpiCARE working group 18 on developmental and epileptic encephalopathies.

Epilepsy Behav 182:111112

Authors: Valentina De Giorgis, Bernando Dalla Bernardina, Isabella Brambilla, Christoph Helmstaedter, Katarzyna Kotulska, Lieven Lagae, Maša Malenica, Kari Modalsli Aaberg, Morten Ingvar Lossius, Sverre Myren, Rima Nabbout, Lino Nobili, Andrea Palacio-Navarro, Sergiusz Jozwiak

Affiliations

  • Department of Brain and Behaviour Neuroscience, University of Pavia, Pavia, Italy; Child Neurology and Psychiatry Unit, IRCCS, Member of the ERN EpiCARE, Mondino Foundation, Pavia, Italy.
  • Unit of Child Neuropsychiatry, Member of the ERN EpiCARE, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy.
  • Dravet Italia Onlus, Patient Advocates Group (ePAG) Member of the ERN EpiCARE, Verona, Italy.
  • Department of Epileptology, Member of the ERN EpiCARE, University Hospital Bonn, Bonn, Germany.
  • Department of Neurology and Epileptology, Member of the ERN EpiCARE, The Children's Memorial Health Institute, Warsaw, Poland.
  • Department Development and Regeneration, Childhood Epilepsy Center, Member of ERN EpiCARE, University Hospitals of Leuven Belgium.
  • Department of Child Neurology and Epileptology, Pediatrics Clinic, Sestre Milosrdnice University Hospital Center, Member of the ERN EpiCARE, Zagreb, Croatia.
  • National Center for Epilepsy, Member of the ERN EpiCARE, Oslo University Hospital, Oslo, Norway.
  • National Center for Epilepsy, Member of the ERN EpiCARE, Sandvika, Oslo University Hospital, Oslo, Norway; University of Oslo, Norway.
  • Department of Neurology, Ålesund Hospital, Ålesund, Norway; Department of Neuromedicine and Movement Science, NTNU, Trondheim, Norway; Department of Health Sciences in Ålesund, NTNU, Ålesund, Norway.
  • Necker Enfants Malades Hospital, APHP, Member of the ERN EpiCARE, Université Paris Cité, Paris, France; Institut Imagine, INSERM U1163, Université Paris Cite, Paris, France.
  • Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Member of the ERN EpiCARE, Genoa, Italy; Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Epilepsy Unit, Neuropsychology Section, Member of the ERN EpiCARE, Sant Joan de Déu's Hospital, Barcelona, Spain.
  • Research Department, Member of the ERN EpiCARE, The Children's Memorial Health Institute, Warsaw, Poland.

Abstract

Developmental and Epileptic Encephalopathies (DEEs) are rare, severe neurodevelopmental disorders characterized not only by refractory seizures but also by complex cognitive, behavioral, psychiatric, and psychosocial manifestations that profoundly affect long-term outcomes. Traditional seizure-centered endpoints capture only part of the disease burden and may fail to reflect priorities identified by patients and caregivers. This manuscript represents a conference proceedings paper developed within the ERN EpiCARE Working Group 18 ("Beyond Seizures"), integrating a structured narrative synthesis of current literature with thematic discussions held during the 2025 ERN EpiCARE Congress in Ålesund. Contributions from domain experts were harmonized through iterative review to identify shared priorities, unmet needs, and future directions in DEE care. The aim was not to develop formal consensus statements, but rather to identify shared priorities, unmet needs, and future directions in DEE care. Key domains addressed include neurodevelopmental trajectories, patient-centered outcomes, sleep disturbances, stigma, antiseizure medication effects beyond seizure control, neuropsychological rehabilitation, and transition to adult care. Across these areas, emerging evidence supports the integration of developmental, functional, and quality-of-life measures alongside seizure outcomes in both clinical practice and research. While advances in genetics and targeted therapies are reshaping the therapeutic landscape, substantial gaps remain in longitudinal data, standardized assessment strategies, and equitable access to multidisciplinary care. A coordinated, patient-centered, and lifespan-oriented approach is necessary to ensure that novel interventions meaningfully improve developmental and functional outcomes for individuals with DEEs and their families.

MeSH

Epilepsy, Seizures, Therapeutics, Neurodevelopment