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1. A multicenter, matched case–control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in Germany

Author

Lappe, Lisa, Hertzberg, Christoph, Knake, Susanne, Knuf, Markus, von Podewils, Felix, Willems, Laurent M., Kovac, Stjepana, Zöllner, Johann Philipp, Sauter, Matthias, Kurlemann, Gerhard, Mayer, Thomas, Bertsche, Astrid, Marquard, Klaus, Meyer, Sascha, Schäfer, Hannah, Thiels, Charlotte, Zukunft, Bianca, Schubert-Bast, Susanne, Reese, Jens-Peter, Rosenow, Felix, and Strzelczyk, Adam

Published
2024
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7. Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

Author

Maltseva, Margarita, Schubert-Bast, Susanne, Zöllner, Johann Philipp, Bast, Thomas, Mayer, Thomas, von Spiczak, Sarah, Ruf, Susanne, Trollmann, Regina, Wolff, Markus, Hornemann, Frauke, Klotz, Kerstin A., Jacobs, Julia, Kurlemann, Gerhard, Neubauer, Bernd A., Polster, Tilman, Syrbe, Steffen, Bertsche, Astrid, Bettendorf, Ulrich, Kluger, Gerhard, Flege, Silke, Rosenow, Felix, Kay, Lara, and Strzelczyk, Adam

Published
2023
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11. Anti-convulsant Agents: Cannabidiol and Fenfluramine

Author

Strzelczyk, Adam, Frey, Katharina, Rosenow, Felix, Schubert-Bast, Susanne, Elger, Christian E., Section editor, Riederer, Peter, editor, Laux, Gerd, editor, Nagatsu, Toshiharu, editor, Le, Weidong, editor, and Riederer, Christian, editor

Published
2022
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14. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Author

Collaborative, Epi25, Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther MC, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, and Schreiber, Herbert

Subjects
Clinical Research, Human Genome, Neurosciences, Epilepsy, Biotechnology, Genetics, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Case-Control Studies, DNA Mutational Analysis, Exome, Genetic Markers, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Exome Sequencing, Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Epi25 Collaborative, burden analysis, epilepsy, epileptic encephalopathy, exome, seizures, sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy; we saw the strongest enrichment in individuals with DEEs and the least strong in individuals with NAFE. Moreover, we found that inhibitory GABAA receptor genes were enriched for missense variants across all three classes of epilepsy, whereas no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEEs and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the lead associations; such genes included CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study, the largest epilepsy WES study to date, confirms a convergence in the genetics of severe and less-severe epilepsies associated with ultra-rare coding variation, and it highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology.

Published
2019

19. Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany

Author

Willems, Laurent M., Schubert-Bast, Susanne, Grau, Janina, Hertzberg, Christoph, Kurlemann, Gerhard, Wiemer-Kruel, Adelheid, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Fiedler, Barbara, Hahn, Andreas, Hartmann, Hans, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Kieslich, Matthias, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knuf, Markus, Mayer, Thomas, Marquard, Klaus, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Noda, Anna H., Ruf, Susanne, Sauter, Matthias, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wilken, Bernd, Zöllner, Johann Philipp, Rosenow, Felix, and Strzelczyk, Adam

Published
2021
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21. Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives

Author

Willems, Laurent M., Rosenow, Felix, Schubert-Bast, Susanne, Kurlemann, Gerhard, Zöllner, Johann Philipp, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Ebrahimi-Fakhari, Daniel, Grau, Janina, Hahn, Andreas, Hartmann, Hans, Hertzberg, Christoph, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knake, Susanne, Knuf, Markus, Marquard, Klaus, Mayer, Thomas, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, von Podewils, Felix, Ruf, Susanne, Sauter, Matthias, Schäfer, Hannah, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wiemer-Kruel, Adelheid, Wilken, Bernd, Zukunft, Bianca, and Strzelczyk, Adam

Published
2021
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29. Consultation Requests and Satisfaction with a Telehealth Network for Epilepsy: Longitudinal Analysis of the Epilepsy Network Hessen Evaluation.

Author

Zöllner, Johann Philipp, Rosenow, Felix, Schubert-Bast, Susanne, Roth, Christian, Knake, Susanne, Eickhoff, Clemens, Scheuble, Pascal, Martin, Jürgen, Bollensen, Edgar, Teepker, Michael, Singer, Oliver, Schirmer, Svenja, Dietz, Andreas, Henn, Karl-Heinz, Stolz, Erwin, Schüttler-Gahin, Katrin, Fischer, Michaela, Noda, Anna, Mann, Catrin, and Strzelczyk, Adam

Subjects
EPILEPSY, SATISFACTION, MAGNETIC resonance imaging, PHYSICIANS, CHILD patients, TELEMEDICINE
Abstract

Background: Telemedicine improves access to specialized medical expertise, as required for paroxysmal disorders. The Epilepsy Network Hessen Evaluation (ENHE) is a pilot cross-sectoral teleconsultation network connecting primary neurologists and pediatricians with epilepsy centers in Hessen, a federal German state. Methods: We prospectively and longitudinally evaluated telehealthcare in the ENHE. Participating physicians rated each consultation for satisfaction and impact on further management. The survey was administered at each consultation and 3 months later. Results: We analyzed 129 consultations involving 114 adult and pediatric patients. Their mean age was 34 years (standard deviation: 26, range: 0.1–91 years), 48% were female, and 34% were children and adolescents. The most common consultation requests were co-evaluation of an electroencephalogram (electroencephalogram [EEG]; 76%) and therapeutic (33%) and differential diagnosis (24%) concerns. Physicians transmitted one paraclinical examination on average (range: 1–4), predominantly EEG (85%), followed by magnetic resonance imaging (17%) and written records (9%). Response rates were 72% for the initial and 67% for the follow-up survey. Across respondents, 99% (n = 92) were satisfied with the ENHE. Overall, 80% of the consultations contributed to the diagnosis, and 90% were considered helpful for treatment, influencing it in 71% of cases. Seizure frequency had decreased more often (96%) than increased (4%) at 3 months. The initial diagnosis was confirmed in 78% of patients. Discussion: In this pilot teleconsultation network for paroxysmal disorders, diagnostic and therapeutic advice was perceived as helpful. Clinical outcomes were largely positive, suggesting tele-epileptology is viable for paroxysmal (seizure) disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Could the 2017 ILAE and the four-dimensional epilepsy classifications be merged to a new “Integrated Epilepsy Classification”?

Author

Rosenow, Felix, Akamatsu, Naoki, Bast, Thomas, Bauer, Sebastian, Baumgartner, Christoph, Benbadis, Selim, Bermeo-Ovalle, Adriana, Beyenburg, Stefan, Bleasel, Andrew, Bozorgi, Alireza, Brázdil, Milan, Carreño, Mar, Delanty, Norman, Devereaux, Michael, Duncan, John, Fernandez-Baca Vaca, Guadalupe, Francione, Stefano, García Losarcos, Naiara, Ghanma, Lauren, Gil-Nagel, Antonio, Hamer, Hajo, Holthausen, Hans, Omidi, Shirin Jamal, Kahane, Philippe, Kalamangalam, Giri, Kanner, Andrés, Knake, Susanne, Kovac, Stjepana, Krakow, Karsten, Krämer, Günter, Kurlemann, Gerhard, Lacuey, Nuria, Landazuri, Patrick, Lim, Shi Hui, Londoño, Luisa V., LoRusso, Giorgio, Luders, Hans, Mani, Jayanti, Matsumoto, Riki, Miller, Jonathan, Noachtar, Soheyl, O’Dwyer, Rebecca, Palmini, André, Park, Jun, Reif, Philipp S., Remi, Jan, Sakamoto, Americo C., Schmitz, Bettina, Schubert-Bast, Susanne, Schuele, Stephan, Shahid, Asim, Steinhoff, Bernhard, Strzelczyk, Adam, Szabo, C. Akos, Tandon, Nitin, Terada, Kiyohito, Toledo, Manuel, van Emde Boas, Walter, Walker, Matthew, and Widdess-Walsh, Peter

Published
2020
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40. Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

Author

Grau, Janina, Zöllner, Johann Philipp, Schubert-Bast, Susanne, Kurlemann, Gerhard, Hertzberg, Christoph, Wiemer-Kruel, Adelheid, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Fiedler, Barbara, Hahn, Andreas, Hartmann, Hans, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Kieslich, Matthias, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knuf, Markus, Mayer, Thomas, Marquard, Klaus, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Noda, Anna H., Ruf, Susanne, Sauter, Matthias, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wilken, Bernd, Willems, Laurent M., Rosenow, Felix, and Strzelczyk, Adam

Published
2021
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41. Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature

Author

Zöllner, Johann Philipp, Grau, Janina, Rosenow, Felix, Sauter, Matthias, Knuf, Markus, Kurlemann, Gerhard, Mayer, Thomas, Hertzberg, Christoph, Bertsche, Astrid, Immisch, Ilka, Klein, Karl Martin, Knake, Susanne, Marquard, Klaus, Meyer, Sascha, Noda, Anna H., von Podewils, Felix, Schäfer, Hannah, Thiels, Charlotte, Willems, Laurent M., Zukunft, Bianca, Schubert-Bast, Susanne, and Strzelczyk, Adam

Published
2021
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42. Wada test results contribute to the prediction of change in verbal learning and verbal memory function after temporal lobe epilepsy surgery

Author

Conradi, Nadine, Rosenberg, Friederike, Knake, Susanne, Biermann, Louise, Haag, Anja, Gorny, Iris, Hermsen, Anke, von Podewils, Viola, Behrens, Marion, Gurschi, Marianna, du Mesnil de Rochemont, Richard, Menzler, Katja, Bauer, Sebastian, Schubert-Bast, Susanne, Nimsky, Christopher, Konczalla, Jürgen, Rosenow, Felix, and Strzelczyk, Adam

Published
2021
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43. Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany

Author

Zöllner, Johann Philipp, Conradi, Nadine, Sauter, Matthias, Knuf, Markus, Knake, Susanne, Kurlemann, Gerhard, Mayer, Thomas, Hertzberg, Christoph, Bertsche, Astrid, Immisch, Ilka, Klein, Karl Martin, Marquard, Klaus, Meyer, Sascha, Noda, Anna H., von Podewils, Felix, Schäfer, Hannah, Thiels, Charlotte, Zukunft, Bianca, Schubert-Bast, Susanne, Grau, Janina, Willems, Laurent M., Rosenow, Felix, Reese, Jens-Peter, and Strzelczyk, Adam

Published
2021
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44. Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany

Author

Riechmann, Janna, Willems, Laurent M., Boor, Rainer, Kieslich, Matthias, Knake, Susanne, Langner, Cornelia, Neubauer, Bernd A., Oberman, Bettina, Philippi, Heike, Reese, Jens P., Rochel, Michael, Schubert-Bast, Susanne, Seeger, Jürgen, Seipelt, Peter, Stephani, Ulrich, Rosenow, Felix, Hamer, Hajo M., and Strzelczyk, Adam

Published
2019
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45. Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany

Author

Strzelczyk, Adam, Kalski, Malin, Bast, Thomas, Wiemer-Kruel, Adelheid, Bettendorf, Ulrich, Kay, Lara, Kieslich, Matthias, Kluger, Gerhard, Kurlemann, Gerhard, Mayer, Thomas, Neubauer, Bernd A., Polster, Tilman, Herting, Arne, von Spiczak, Sarah, Trollmann, Regina, Wolff, Markus, Irwin, John, Carroll, Joe, Macdonald, Daniel, Pritchard, Clive, Klein, Karl Martin, Rosenow, Felix, and Schubert-Bast, Susanne

Published
2019
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46. Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.

Author

Amin, Sam, Møller, Rikke S., Aledo‐Serrano, Angel, Arzimanoglou, Alexis, Bager, Patrick, Jóźwiak, Sergiusz, Kluger, Gerhard Josef, López‐Cabeza, Sandra, Nabbout, Rima, Partridge, Carol‐Anne, Schubert‐Bast, Susanne, Specchio, Nicola, and Kälviäinen, Reetta

Subjects
EPILEPSY, CARE of people, PATIENT advocacy, GENETIC mutation, PRESSURE groups
Abstract

Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early‐onset seizures, severe neurodevelopmental delay, hypotonia, motor disabilities, cerebral (cortical) visual impairment and microcephaly. With no disease‐modifying therapies available for CDD, treatment is symptomatic with an initial focus on seizure control. Another unmet need in the management of people with CDD is the lack of evidence to aid standardized care and guideline development. To address this gap, experts in CDD and representatives from patient advocacy groups from Denmark, Finland, France, Germany, Italy, Poland, Spain, and the United Kingdom convened to form an Expert Working Group. The aim was to provide an expert opinion consensus on how to ensure quality care in routine clinical practice within the European setting, including in settings with limited experience or resources for multidisciplinary care of CDD and other developmental and epileptic encephalopathies. By means of one‐to‐one interviews around the current treatment landscape in CDD, insights from the Expert Working Group were collated and developed into a Europe‐specific patient journey for individuals with CDD, which was later validated by the group. Further discussions followed to gain consensus of opinions on challenges and potential solutions for achieving quality care in this setting. The panel recognized the benefit of early genetic testing, a holistic personalized approach to seizure control (taking into consideration various factors such as concomitant medications and comorbidities), and age‐ and comorbidity‐dependent multidisciplinary care for optimizing patient outcomes and quality of life. However, their insights and experiences also highlighted much disparity in management approaches and resources across different European countries. Development of standardized European recommendations is required to align realistic diagnostic criteria, treatment goals, and management approaches that can be adapted for different settings. Plain language summary: Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a rare condition caused by a genetic mutation with a broad range of symptoms apparent from early childhood, including epileptic seizures that do not respond to medication and severe delays in development. Due to the lack of guidance on managing CDD, international experts and patient advocates discussed best practices in the care of people with CDD in Europe. The panel agreed that early testing, a personalized approach to managing seizures, and access to care from different disciplines are beneficial. Development of guidelines to ensure that care is standardized would also be valuable. [ABSTRACT FROM AUTHOR]

Published
2024
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47. Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany

Author

Maltseva, Margarita, primary, Rosenow, Felix, additional, Schubert‐Bast, Susanne, additional, Flege, Silke, additional, Wolff, Markus, additional, von Spiczak, Sarah, additional, Trollmann, Regina, additional, Syrbe, Steffen, additional, Ruf, Susanne, additional, Polster, Tilman, additional, Neubauer, Bernd A., additional, Mayer, Thomas, additional, Jacobs, Julia, additional, Kurlemann, Gerhard, additional, Kluger, Gerhard, additional, Klotz, Kerstin A., additional, Kieslich, Matthias, additional, Kay, Lara, additional, Hornemann, Frauke, additional, Bettendorf, Ulrich, additional, Bertsche, Astrid, additional, Bast, Thomas, additional, and Strzelczyk, Adam, additional

Published
2023
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48. Klinische Charakteristika, Ressourcenverbrauch, Lebensqualität und Versorgungssituation beim Dravet-Syndrom in Deutschland

Author

Kalski, Malin, Schubert-Bast, Susanne, Kieslich, Matthias, Leyer, Anne‑Christine, Polster, Tilman, Herting, Arne, Mayer, Thomas, Trollmann, Regina, Neubauer, Bernd A., Bettendorf, Ulrich, Bast, Thomas, Wiemer-Kruel, Adelheid, von Spiczak, Sarah, Kurlemann, Gerhard, Wolff, Markus, Kluger, Gerhard, Carroll, Joe, Macdonald, Daniel, Pritchard, Clive, Irwin, John, Klein, Karl Martin, Rosenow, Felix, Strzelczyk, Adam, and Kay, Lara

Published
2019
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