OBJECTIVE: Clinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies. METHODS: Members of the European Reference Network for rare and complex epilepsies (EpiCARE) were invited to participate in a web-based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht-like diseases. A consensus-based questionnaire was generated for each disease. RESULTS: Twenty-six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht-like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers. SIGNIFICANCE: 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.

Alexandru Obregia Clinical Hospital Bucharest Romania

Brno Epilepsy Center Department of Child Neurology Brno University Hospital Medical Faculty of Masaryk University Brno Czech Republic

Brno Epilepsy Center Department of Neurology St Anne´s University Hospital Medical Faculty of Masaryk University Brno Czech Republic

Centro Hospitalar e Universitario de Coimbra Coimbra Portugal

Centro Hospitalar Universitário do Porto Porto Portugal

Centro Hospitalar Universitário Lisboa Norte Hospital de Santa Maria Lisboa Portugal

Children's Hospital A Meyer University of Florence Florence Italy

CHRU LILLE Epilepsy Unit Lille France

Departement of Neurology Charles University 2nd Faculty of Medicine and Motol University Hospital Prague Czech Republic

Department of Child Neurology University Medical Center Utrecht Utrecht The Netherlands

Department of Epileptology University Hospital Bonn Bonn Germany

Department of Functional Neurology and Epileptology Hospices Civils de Lyon University of Lyon Lyon France

Department of Paediatric Clinical Epileptology Sleep Disorders and Functional Neurology University Hospitals of Lyon Lyon France

Department of Paediatric Neurology Children's Hospital John Radcliffe Hospital Oxford UK

Department of Pediatric Neurology APHP Imagine Institute Reference Centre for Rare Epilepsies Paris Descartes University Paris France

Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

Department of Pediatrics Institute of Clinical Sciences Sahlgrenska Academy University of Gothenburg and Queen Silvia Children's Hospital Sahlgrenska University Hospital Gothenburg Sweden

Department of Pharmacology Oslo University Hospital The National Center for Epilepsy Oslo Metropolitan University Oslo Norway

Epilepsy Center Faculty of Medicine University Medical Center Freiburg Germany

Epilepsy Centre Faculty of Health and Life Sciences Hospital del Mar IMIM Universitat Pompeu Fabra Barcelona Spain

Epilepsy Unit Child Neurology Department Hospital San Juan de Dios Barcelona Spain

Epilepsy Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

Great Ormond Street Hospital for Children NHS Trust London UK

Hospital Clinic de Barcelona Barcelona Spain

IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy

IRCCS Mondino Foundation Pavia Italy

Oxford Epilepsy Research Group NIHR Oxford Biomedical Research Centre Nuffield Department of Clinical Neurosciences John Radcliffe Hospital Oxford UK

Pohjois Savon Sairaanhoitopiiri Kuopio University Hospital Kuopio Finland

Queen Elizabeth University Hospitals Campus Glasgow UK

Rare and Complex Epilepsy Unit Department of Neuroscience Bambino Gesu' Children's Hospital IRCCS Rome Italy

Refractory Epilepsy Unit of Hospital Universitario y Politécnico La Fe Valencia Spain

The Children's Memorial Health Institute Warsaw Poland

University College London Hospitals NHS Foundation Trust London UK

University Hospital Gasthuisberg KU Leuven Belgium

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