Search

Your search keyword '"Kluger, Gerhard"' showing total 590 results
Start Over Author "Kluger, Gerhard"
590 results on '"Kluger, Gerhard"'

3. 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
Full Text
View/download PDF

6. Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

Author

Jansen, Anna, Lagae, Lieven, Bast, Thomas, von Spiczak, Sarah, Kluger, Gerhard, van Bogaert, Patrick, Gaily, Eija, Baer, Sarah, Auvin, Stéphane, Chin, Richard, Zuberi, Sameer, Dimova, Petia, Craiu, C Dana, Veggiotti, Pierangelo, Ramantani, Georgia, van Arnhem, Marleen M L, van den Munckhof, Bart, Arzimanoglou, Alexis, Perucca, Emilio, Metsähonkala, Liisa, Rubboli, Guido, Søndergaard Khinchi, Marianne, de Saint-Martin, Anne, Klotz, Kerstin A, Jacobs, Julia, Cross, J Helen, Garcia Morales, Irene, Otte, Wim M, van Teeseling, Heleen C, Leijten, Frans S S, Braun, Kees P J, and Jansen, Floor E

Published
2024
Full Text
View/download PDF

8. Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy

Author

Schneider Marius Frederik, Vogt Miriam, Scheuermann Johanna, Müller Veronika, Fischer-Hentrich Antje H. L., Kremer Thomas, Lugert Sebastian, Metzger Friedrich, Kudernatsch Manfred, Kluger Gerhard, Hartlieb Till, Noachtar Soheyl, Vollmar Christian, Kunz Mathias, Tonn Jörg Christian, Coras Roland, Blümcke Ingmar, Pace Claudia, Heinen Florian, Klein Christoph, Potschka Heidrun, and Borggraefe Ingo

Subjects
dravet syndrome, long non coding rna, regulatory rna, precision medicine, epilepsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Heterozygous mutations within the voltage-gated sodium channel α subunit (SCN1A) are responsible for the majority of cases of Dravet syndrome (DS), a severe developmental and epileptic encephalopathy. Development of novel therapeutic approaches is mandatory in order to directly target the molecular consequences of the genetic defect. The aim of the present study was to investigate whether cis-acting long non-coding RNAs (lncRNAs) of SCN1A are expressed in brain specimens of children and adolescent with epilepsy as these molecules comprise possible targets for precision-based therapy approaches.

Published
2024
Full Text
View/download PDF

10. Anti-convulsant Agents: Rufinamide

Author

Hartlieb, Till, Kluger, Gerhard, Elger, Christian E., Section editor, Riederer, Peter, editor, Laux, Gerd, editor, Nagatsu, Toshiharu, editor, Le, Weidong, editor, and Riederer, Christian, editor

Published
2022
Full Text
View/download PDF

11. 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

12. Clinical spectrum of STX1B-related epileptic disorders.

Author

Cilio, Maria, Van Paesschen, Wim, Svendsen, Lene, Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair, Vavoulis, Dimitris, Knight, Samantha, Taylor, Jenny, Canevini, Maria, Darra, Francesca, Gavrilova, Ralitza, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric, Kluger, Gerhard, Lowenstein, Daniel, Weckhuysen, Sarah, Pal, Deb, Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys, Rees, Mark, Lesca, Gaetan, Sisodiya, Sanjay, Weber, Yvonne, Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian, Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke, Balestrini, Simona, Helbig, Katherine, Altuzarra, Cecilia, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce, and Numis, Adam

Subjects
Adolescent, Anticonvulsants, Child, Child, Preschool, Developmental Disabilities, Drug Resistant Epilepsy, Electroencephalography, Epilepsies, Partial, Epileptic Syndromes, Female, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Learning Disabilities, Loss of Function Mutation, Male, Mutation, Missense, Phenotype, Seizures, Febrile, Sequence Analysis, DNA, Syntaxin 1, Young Adult
Abstract

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.

Published
2019

14. 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
Full Text
View/download PDF

16. 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
Full Text
View/download PDF

18. 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
Full Text
View/download PDF

20. Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

Author

van Arnhem, Marleen M L, primary, van den Munckhof, Bart, additional, Arzimanoglou, Alexis, additional, Perucca, Emilio, additional, Metsähonkala, Liisa, additional, Rubboli, Guido, additional, Søndergaard Khinchi, Marianne, additional, de Saint-Martin, Anne, additional, Klotz, Kerstin A, additional, Jacobs, Julia, additional, Cross, J Helen, additional, Garcia Morales, Irene, additional, Otte, Wim M, additional, van Teeseling, Heleen C, additional, Leijten, Frans S S, additional, Braun, Kees P J, additional, Jansen, Floor E, additional, Jansen, Anna, additional, Lagae, Lieven, additional, Bast, Thomas, additional, von Spiczak, Sarah, additional, Kluger, Gerhard, additional, van Bogaert, Patrick, additional, Gaily, Eija, additional, Baer, Sarah, additional, Auvin, Stéphane, additional, Chin, Richard, additional, Zuberi, Sameer, additional, Dimova, Petia, additional, Craiu, C Dana, additional, Veggiotti, Pierangelo, additional, and Ramantani, Georgia, additional

Published
2023
Full Text
View/download PDF

21. 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
Full Text
View/download PDF

23. 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
Full Text
View/download PDF

24. Chewing induced reflex seizures (“eating epilepsy”) and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases

Author

von Stülpnagel, Celina, Hartlieb, Till, Borggräfe, Ingo, Coppola, Antonietta, Gennaro, Elena, Eschermann, Kirsten, Kiwull, Lorenz, Kluger, Felicitas, Krois, Ilona, Møller, Rikke S., Rössler, Franziska, Santulli, Lia, Schwermer, Constanze, Wallacher-Scholz, Barbara, Zara, Federico, Wolf, Peter, and Kluger, Gerhard

Published
2019
Full Text
View/download PDF

26. 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
Full Text
View/download PDF

28. Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial

Author

Tacke, Moritz, Borggraefe, Ingo, Gerstl, Lucia, Heinen, Florian, Vill, Katharina, Bonfert, Michaela, Bast, Thomas, Neubauer, Bernd Axel, Baumeister, Friedrich, Baethmann, Martina, Bentele, Karl, Blank, Christian, Blank, Harald M., Bode, Harald, Bosch, Friedrich, Brandl, Ulrich, Brockmann, Knut, Dahlem, Peter, Ernst, Jan-Peter, Feldmann, Evemarie, Fiedler, Andreas, Gerigk, Michael, Heß, Soeren, Hikel, Christiane, Hoffmann, Hans-Georg, Kieslich, Matthias, Klepper, Joerg, Kluger, Gerhard, Koch, Hartmut, Koch, Walter, Korinthenberg, Rudolf, Krois, Ilona, Kühne, Hermann, Kurlemann, Gerhard, Mandl, Michaela, Mause, Ulrike, Navratil, Peter, Opp, Joachim, Penzien, Johann, Prietsch, Viola, Quattländer, Axel, Rating, Dietz, Schara, Ulrike, Shamdeen, Mohammed G., Sprinz, Andreas, Wendker-Magrabi, Hildegard, Stephani, Ulrich, Muhle, Hiltrud, Straßburg, Hans-Michael, Töpke, Bärbel, Trollmann, Regina, Tuschen-Hofstätter, Elisabeth, Waltz, Stephan, Weber, Gabriele, Wien, Frank U., Wolff, Markus, Polster, Tilman, Freitag, Hedwig, Sönmez, Ötzcam, Reinhardt, Klaus, Traus, Marion, and Hoovey, Zeecam

Published
2018
Full Text
View/download PDF

29. 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
Full Text
View/download PDF

30. Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Author

Wielaender, Franziska, Sarviaho, Riika, James, Fiona, Hytönen, Marjo K., Cortez, Miguel A., Kluger, Gerhard, Koskinen, Lotta L. E., Arumilli, Meharji, Kornberg, Marion, Bathen-Noethen, Andrea, Tipold, Andrea, Rentmeister, Kai, Bhatti, Sofie F. M., Hülsmeyer, Velia, Boettcher, Irene C., Tästensen, Carina, Flegel, Thomas, Dietschi, Elisabeth, Leeb, Tosso, Matiasek, Kaspar, Fischer, Andrea, and Lohi, Hannes

Published
2017

31. Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences

Author

Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tulay, Morano, Alessandra, Panagiotakaki, Eleni, Operto, Francesca F, Gonzalez Giraldez, Beatriz, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Balestrini, Simona, Fortunato, Francesco, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Kasteleijn-Nolst Trenité, Dorothée G A, Gambardella, Antonio, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, Irelli, Emanuele Cerulli, Cocchi, Enrico, Ramantani, Georgia, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tulay, Morano, Alessandra, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Balestrini, Simona, Fortunato, Francesco, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Kasteleijn-Nolst Trenité, Dorothée G A, Gambardella, Antonio, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexi, Striano, Pasquale, Di Bonaventura, Carlo, and University of Zurich

Subjects
Myoclonus, Epilepsy, Eyelids, 610 Medicine & health, Electroencephalography, Seizures, Febrile, Substance Withdrawal Syndrome, Febrile, 2728 Neurology (clinical), Status Epilepticus, 10036 Medical Clinic, Recurrence, Seizures, Child, Preschool, Humans, Anticonvulsants, Neurology (clinical), Preschool, Child, Retrospective Studies
Abstract

Background and ObjectivesEyelid myoclonia (EM) with absences (EMA) is a generalized epilepsy syndrome with a prognosis and clinical characteristics that are still partially undefined. We investigated electroclinical endophenotypes and long-term seizure outcome in a large cohort of patients with EMA.MethodsIn this multicenter retrospective study, patients with EMA with ≥5 years of follow-up were included. We investigated prognostic patterns and sustained terminal remission (STR), along with their prognostic factors. Moreover, a 2-step cluster analysis was used to investigate the presence of distinct EMA endophenotypes.ResultsWe included 172 patients with a median age at onset of 7 years (interquartile range [IQR] 5–10 years) and a median follow-up duration of 14 years (IQR 8.25–23.75 years). Sixty-six patients (38.4%) displayed a nonremission pattern, whereas remission and relapse patterns were encountered in 56 (32.6%) and 50 (29.1%) participants. Early epilepsy onset, history of febrile seizures (FS), and EM status epilepticus significantly predicted a nonremission pattern according to multinomial logistic regression analysis. STR was achieved by 68 (39.5%) patients with a mean latency of 14.05 years (SD ±12.47 years). Early epilepsy onset, psychiatric comorbid conditions, and a history of FS and generalized tonic-clonic seizures were associated with a lower probability of achieving STR according to a Cox regression proportional hazards model. Antiseizure medication (ASM) withdrawal was attempted in 62 of 172 patients, and seizures recurred in 74.2%. Cluster analysis revealed 2 distinct clusters with 86 patients each. Cluster 2, which we defined as EMA-plus, was characterized by an earlier age at epilepsy onset, higher rate of intellectual disability, EM status epilepticus, generalized paroxysmal fast activity, self-induced seizures, FS, and poor ASM response, whereas cluster 1, the EMA-only cluster, was characterized by a higher rate of seizure remission and more favorable neuropsychiatric outcome.DiscussionEarly epilepsy onset was the most relevant prognostic factor for poor treatment response. A long latency between epilepsy onset and ASM response was observed, suggesting the effect of age-related brain changes in EMA remission. Last, our cluster analysis showed a clear-cut distinction of patients with EMA into an EMA-plus insidious subphenotype and an EMA-only benign cluster that strongly differed in terms of remission rates and cognitive outcomes.

Published
2022

33. Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome.

Author

Moreno-Brauer, Darinka, Häusler, Martin, Kluger, Gerhard, Hensler, Johannes, and van Baalen, Andreas

Subjects
MAGNETIC resonance imaging, PERSISTENT vegetative state, CEREBRAL atrophy, EPILEPSY, INTELLIGENCE levels
Abstract

Objective Describing spectrum, evolution, and clinical relationship of brain magnetic resonance imaging (MRI) findings in a large case series of children with febrile infection-related epilepsy syndrome (FIRES). Methods This retrospective study included 31 children with FIRES. Clinical data and MRI findings of the brain were evaluated. Poor clinical outcome was defined as severe disability, persistent vegetative state or stupor, very low intelligence quotient (<80), or death (modified Rankin scale 4–6 and Glasgow Outcome Score 1–3). Results Seventeen (54.8%) children with FIRES showed no abnormalities in the initial MRI, whereas 28 (90.3%) children showed MRI abnormalities at follow-up. The most frequent abnormalities were brain atrophy (74.2%) and T2/fluid-attenuated inversion recovery changes (64.5%), mostly hippocampal (45.2%). Generalized brain atrophy was the most frequent type of atrophy (58%). The earliest atrophy was recorded 9 days after the onset of disease. It progressed even beyond the acute phase in most children (51.6%). The exploratory data analysis revealed nominal significance between all MRI abnormalities considered together and poor outcome (p = 0.049) and between generalized brain atrophy and anesthesia (p = 0.024). After adjustment for multiple testing, the p- values were not significant. The outcome in four (12.9%) children was not poor despite generalized brain atrophy. Conclusion In contrast to the uniform clinical course, MRI demonstrated a broad spectrum of findings. Initially, these were mostly normal and therefore indicative of FIRES but then changed rapidly and were mostly progressive despite the stable chronic course. The cause may be ongoing disease, treatment intensity, or both. Future studies should focus on what process underlies the onset and the progression of brain atrophy. However, brain atrophy was not always related to poor outcomes in children despite FIRES. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

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

Author

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

Subjects
CAREGIVERS, PULSE oximeters, POSTURE, LONGITUDINAL method, HYGIENE
Abstract

Objective: The aim was to investigate the monitoring, interventions, and occurrence of critical, potentially life‐threatening incidents in patients with Dravet syndrome (DS) and caregivers' knowledge about sudden unexpected death in epilepsy (SUDEP). Methods: This multicenter, cross‐sectional study of patients with DS and their caregivers in Germany consisted of a questionnaire and prospective diary querying the disease characteristics and demographic data of patients and caregivers. Results: Our analysis included 108 questionnaires and 82 diaries. Patients with DS were 49.1% male (n = 53), with a mean age of 13.5 (SD ± 10.0 years) and primary caregivers were 92.6% (n = 100) female, with a mean age of 44.7 (SD ± 10.6 years). Monitoring devices were used regularly by 75.9% (n = 82) of caregivers, and most monitored daily/nightly. Frequently used devices were pulse oximeters (64.6%), baby monitors (64.6%), thermometers (24.1%), and Epi‐Care (26.8%). Younger caregiver and patient age and history of status epilepticus were associated with increased use of monitoring, and 81% of monitor users reported having avoided a critical incident with nocturnal monitoring. The need for resuscitation due to cardiac or respiratory arrest was reported by 22 caregivers (20.4%), and most cases (72.7%) were associated with a seizure. Caregivers reported frequently performing interventions at night, including oropharyngeal suction, oxygenation, personal hygiene, and change of body position. Most caregivers were well informed about SUDEP (n = 102; 94%) and monitored for a lateral or supine body position; however, only 39.8% reported receiving resuscitation training, whereas 52.8% (n = 57) knew what to do in case the child's breathing or heart activity failed. Significance: Critical incidents and the need for resuscitation are reported frequently by caregivers and may be related to high mortality and SUDEP rates in DS. Resuscitation training is welcomed by caregivers and should be continuously provided. Oxygen monitoring devices are frequently used and considered useful by caregivers. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

36. Genetic diagnostics in epilepsies: recommendations of the Commission Epilepsy and Genetics of German Society of Epileptology (German ILAE Chapter)

Author

Boßelmann, Christian, primary, Borggräfe, Ingo, additional, Fazeli, Walid, additional, Klein, Karl-Martin, additional, Kluger, Gerhard J., additional, Müller-Schlüter, Karen, additional, Neubauer, Bernd A., additional, von Spiczak, Sarah, additional, Steinbeis von Stülpnagel, Celina, additional, Weber, Yvonne, additional, Lemke, Johannes R., additional, Wolking, Stefan, additional, and Krey, Ilona, additional

Published
2023
Full Text
View/download PDF

37. Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study

Author

Projectafdeling FNE, Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto Horacio, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F., Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna Teresa, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard Josef, Gambardella, Antonio, Kasteleijn-NolstTrenite, Dorothee G.A., Baykan, Betul, Sisodiya, Sanjay M., Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, the EMA Study Group, Projectafdeling FNE, Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto Horacio, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F., Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna Teresa, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard Josef, Gambardella, Antonio, Kasteleijn-NolstTrenite, Dorothee G.A., Baykan, Betul, Sisodiya, Sanjay M., Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, and the EMA Study Group

Published
2023

38. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Author

Lotte, Jan, Bast, Thomas, Borusiak, Peter, Coppola, Antonietta, Cross, J. Helen, Dimova, Petia, Fogarasi, Andras, Graneß, Irene, Guerrini, Renzo, Hjalgrim, Helle, Keimer, Reinhard, Korff, Christian M., Kurlemann, Gerhard, Leiz, Steffen, Linder-Lucht, Michaela, Loddenkemper, Tobias, Makowski, Christine, Mühe, Christian, Nicolai, Joost, Nikanorova, Marina, Pellacani, Simona, Philip, Sunny, Ruf, Susanne, Sánchez Fernández, Iván, Schlachter, Kurt, Striano, Pasquale, Sukhudyan, Biayna, Valcheva, Deyana, Vermeulen, R. Jeroen, Weisbrod, Tanja, Wilken, Bernd, Wolf, Philipp, and Kluger, Gerhard

Published
2016
Full Text
View/download PDF

39. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Author

Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, and Sisodiya, Sanjay M.

Published
2018
Full Text
View/download PDF

40. Clinical spectrum of STX1B-related epileptic disorders

Author

Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, and Schubert, Julian

Published
2019
Full Text
View/download PDF

41. Perampanel as precision therapy in rare genetic epilepsies

Author

Nissenkorn, Andreea, primary, Kluger, Gerhard, additional, Schubert‐Bast, Susanne, additional, Bayat, Allan, additional, Bobylova, Marya, additional, Bonanni, Paolo, additional, Ceulemans, Berten, additional, Coppola, Antonietta, additional, Di Bonaventura, Carlo, additional, Feucht, Martha, additional, Fuchs, Anne, additional, Gröppel, Gudrun, additional, Heimer, Gali, additional, Herdt, Brigitte, additional, Kulikova, Sviatlana, additional, Mukhin, Konstantin, additional, Nicassio, Stefania, additional, Orsini, Alessandro, additional, Panagiotou, Maria, additional, Pringsheim, Milka, additional, Puest, Burkhard, additional, Pylaeva, Olga, additional, Ramantani, Georgia, additional, Tsekoura, Maria, additional, Ricciardelli, Paolo, additional, Lerman Sagie, Tally, additional, Stark, Brigit, additional, Striano, Pasquale, additional, van Baalen, Andreas, additional, De Wachter, Matthias, additional, Cerulli Irelli, Emanuele, additional, Cuccurullo, Claudia, additional, von Stülpnagel, Celina, additional, and Russo, Angelo, additional

Published
2023
Full Text
View/download PDF

42. Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study

Author

Kühne, Fabienne, primary, Becker, Lena‐Luise, additional, Bast, Thomas, additional, Bertsche, Astrid, additional, Borggraefe, Ingo, additional, Boßelmann, Christian Malte, additional, Fahrbach, Jörg, additional, Hertzberg, Christoph, additional, Herz, Nina A., additional, Hirsch, Martin, additional, Holtkamp, Martin, additional, Janello, Christine, additional, Kluger, Gerhard Josef, additional, Kurlemann, Gerhard, additional, Lerche, Holger, additional, Makridis, Konstantin L., additional, von Podewils, Felix, additional, Pringsheim, Milka, additional, Schubert‐Bast, Susanne, additional, Schulz, Juliane, additional, Schulze‐Bonhage, Andreas, additional, Steinbart, David, additional, Steinhoff, Bernhard J., additional, Strzelczyk, Adam, additional, Syrbe, Steffen, additional, De Vries, Heike, additional, Wagner, Christiane, additional, Wagner, Johanna, additional, Wilken, Bernd, additional, Prager, Christine, additional, Klotz, Kerstin A., additional, and Kaindl, Angela M., additional

Published
2023
Full Text
View/download PDF

43. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Author

Loong, Lucy, primary, Tardivo, Agostina, additional, Knaus, Alexej, additional, Hashim, Mona, additional, Pagnamenta, Alistair T., additional, Alt, Kerstin, additional, Böhrer-Rabel, Helena, additional, Caro-Llopis, Alfonso, additional, Cole, Trevor, additional, Distelmaier, Felix, additional, Edery, Patrick, additional, Ferreira, Carlos R., additional, Jezela-Stanek, Aleksandra, additional, Kerr, Bronwyn, additional, Kluger, Gerhard, additional, Krawitz, Peter M., additional, Kuhn, Marius, additional, Lemke, Johannes R., additional, Lesca, Gaetan, additional, Lynch, Sally Ann, additional, Martinez, Francisco, additional, Maxton, Caroline, additional, Mierzewska, Hanna, additional, Monfort, Sandra, additional, Nicolai, Joost, additional, Orellana, Carmen, additional, Pal, Deb K., additional, Płoski, Rafał, additional, Quarrell, Oliver W., additional, Rosello, Monica, additional, Rydzanicz, Małgorzata, additional, Sabir, Ataf, additional, Śmigiel, Robert, additional, Stegmann, Alexander P.A., additional, Stewart, Helen, additional, Stumpel, Constance, additional, Szczepanik, Elżbieta, additional, Tzschach, Andreas, additional, Wolfe, Lynne, additional, Taylor, Jenny C., additional, Murakami, Yoshiko, additional, Kinoshita, Taroh, additional, Bayat, Allan, additional, and Kini, Usha, additional

Published
2023
Full Text
View/download PDF

44. Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents

Author

Quade, Annegret, additional, Rostasy, Kevin, additional, Wickström, Ronny, additional, Aydin, Ömer Faruk, additional, Sartori, Stefano, additional, Nosadini, Margherita, additional, Knierim, Ellen, additional, Kluger, Gerhard, additional, Korinthenberg, Rudolf, additional, Stüve, Burkhard, additional, Waltz, Stephan, additional, Leiz, Steffen, additional, and Häusler, Martin, additional

Published
2022
Full Text
View/download PDF

47. Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia

Author

Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Morano, Alessandra, Riva, Antonella, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, and Di Bonaventura, Carlo

Subjects
drug resistance, Jeavons syndrome, catamenial seizures, genetic generalized epilepsy (GGE), photosensitivity
Published
2023

Catalog

Books, media, physical & digital resources
See catalog results