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1. 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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2. 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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3. 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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5. 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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7. 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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8. Treatment Responsiveness in KCNT1-Related Epilepsy

Author

Fitzgerald, Mark P., Fiannacca, Martina, Smith, Douglas M., Gertler, Tracy S., Gunning, Boudewijn, Syrbe, Steffen, Verbeek, Nienke, Stamberger, Hannah, Weckhuysen, Sarah, Ceulemans, Berten, Schoonjans, An-Sofie, Rossi, Massimiliano, Demarquay, Geneviève, Lesca, Gaetan, Olofsson, Kern, Koolen, D. A., Hornemann, Frauke, Baulac, Stephanie, Rubboli, Guido, Minks, Kelly Q., Lee, Bohoon, Helbig, Ingo, Dlugos, Dennis, Møller, Rikke S., and Bearden, David

Published
2019
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9. 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
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10. Parenting stress in families of children with disabilities: Impact of type of disability and assessment of attending paediatricians.

Author

Scheibner, Cora, Scheibner, Maxi, Hornemann, Frauke, Arélin, Maria, Hennig, Yvonne Doris, Kiep, Henriette, Wurst, Ulrike, Merkenschlager, Andreas, and Gburek‐Augustat, Janina

Subjects
FAMILIES & psychology, KRUSKAL-Wallis Test, NONPARAMETRIC statistics, PSYCHOLOGY of parents, CROSS-sectional method, CHILDREN with disabilities, CHILD behavior, MANN Whitney U Test, PARENTING, SLEEP, QUESTIONNAIRES, DESCRIPTIVE statistics, RESEARCH funding, SOCIODEMOGRAPHIC factors, DATA analysis software, PSYCHOLOGICAL stress
Abstract

Background: Parents of children with developmental disorders (DD) or disabilities report greater parenting stress than parents of typically developing children. To minimise this stress, stressful factors need to be known and stress needs to be recognised early. The present cross‐sectional study aims to systematically assess and compare parenting stress in families of children with various types of disabilities. In addition, the assessment of parenting stress by attending paediatricians will be evaluated. Methods: We surveyed 611 parents about their parenting stress at the Children's Development Center (CDC). Three questionnaires, including the German versions of the Parenting Stress Index (PSI) and Impact on Family Scale (IOFS), were used to evaluate parenting stress. Furthermore, attending paediatricians assessed of the child's type of disability and their perception of parenting stress in a separate questionnaire. Results: Fifty‐five percent of all parents reported stress at a clinically relevant level, 65% in the child domain and 39% in the parent domain of the PSI. Parenting stress differed significantly across diagnostic categories (p < 0.01) and was associated with childhood disability related issues of behaviour, sleep or feeding issues. Parenting stress was often underestimated by the paediatricians, especially when the children had disabilities perceived as less severe. In one‐third of parents with clinically relevant total stress, paediatricians reported low stress levels. Parent‐reported financial problems, social isolation, and partnership conflicts were not suspected by paediatricians in ≥85% of cases. Conclusions: Clinically relevant parenting stress was found more often than in comparable studies. An assessment of parenting stress by paediatricians may be complicated by time constraints in medical appointments, the mainly child‐centred consultation, or restricted expression of parents' stress. Paediatricians should move from a purely child‐centred to a holistic, family‐centred approach to treatment. Routine screening of parenting stress using standardised questionnaires could be helpful to identify affected families. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Author

Syrbe, Steffen, Harms, Frederike L., Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L., Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O., Hoffmann, Georg F., Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, Christoph G., Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E., Møller, Rikke S., Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B., Battaglia, Domenica, Lemke, Johannes R., Kutsche, Kerstin, and Guerrini, Renzo

Published
2017
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15. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Author

Bonardi, Claudia M, primary, Heyne, Henrike O, additional, Fiannacca, Martina, additional, Fitzgerald, Mark P, additional, Gardella, Elena, additional, Gunning, Boudewijn, additional, Olofsson, Kern, additional, Lesca, Gaétan, additional, Verbeek, Nienke, additional, Stamberger, Hannah, additional, Striano, Pasquale, additional, Zara, Federico, additional, Mancardi, Maria M, additional, Nava, Caroline, additional, Syrbe, Steffen, additional, Buono, Salvatore, additional, Baulac, Stephanie, additional, Coppola, Antonietta, additional, Weckhuysen, Sarah, additional, Schoonjans, An-Sofie, additional, Ceulemans, Berten, additional, Sarret, Catherine, additional, Baumgartner, Tobias, additional, Muhle, Hiltrud, additional, Portes, Vincent des, additional, Toulouse, Joseph, additional, Nougues, Marie-Christine, additional, Rossi, Massimiliano, additional, Demarquay, Geneviève, additional, Ville, Dorothée, additional, Hirsch, Edouard, additional, Maurey, Hélène, additional, Willems, Marjolaine, additional, de Bellescize, Julitta, additional, Altuzarra, Cecilia Desmettre, additional, Villeneuve, Nathalie, additional, Bartolomei, Fabrice, additional, Picard, Fabienne, additional, Hornemann, Frauke, additional, Koolen, David A, additional, Kroes, Hester Y, additional, Reale, Chiara, additional, Fenger, Christina D, additional, Tan, Wen-Hann, additional, Dibbens, Leanne, additional, Bearden, David R, additional, Møller, Rikke S, additional, and Rubboli, Guido, additional

Published
2021
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16. Additional file 1 of 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

Abstract

Additional file 1. Supplementary Table 1. Direct costs related to TSC manifestations.

Published
2021
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17. Congenital cervical spine malformation due to bi-allelicRIPPLY2 variants in spondylocostal dysostosis type 6

Author

Wegler, Meret, Roth, Christian, Schumann, Eckehard, Kogan, Jillene, Totten, Ellen, Guillen Sacoto, Maria J., Abou Jamra, Rami, and Hornemann, Frauke

Subjects
cervical spine malformation, exome sequencing, Klippel-Feil-syndrome, myelopathy, SDV, spondylocostal dysostosis, supernumerary ribs, ddc:610
Abstract

RIPPLY2 is an essential part of the formation of somite patterning during embryogenesis and in establishment of rostro-caudal polarity. Here, we describe three individuals from two families with compound-heterozygous variants in RIPPLY2 (NM_001009994.2): c.238A > T, p.(Arg80*) and c.240-4 T > G, p.(?), in two 15 and 20-year-old sisters, and a homozygous nonsense variant, c.238A > T, p.(Arg80*), in an 8 year old boy. All patients had multiple vertebral body malformations in the cervical and thoracic region, small or absent rib involvement, myelopathies, and common clinical features of SCDO6 including scoliosis, mild facial asymmetry, spinal spasticity and hemivertebrae. The nonsense variant can be classified as likely pathogenic based on the ACMG criteria while the splice variants must be classified as a variant of unknown significance. With this report on two further families, we confirm RIPPLY2 as the gene for SCDO6 and broaden the phenotype by adding myelopathy with or without spinal canal stenosis and spinal spasticity to the symptom spectrum.

Published
2021

18. KCNT1-related epilepsies and epileptic encephalopathies:phenotypic and mutational spectrum

Author

Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., Rubboli, Guido, Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., and Rubboli, Guido

Abstract

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 previously unpublished and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: (i) EIMFS (152 individuals, 33 previously unpublished); (ii) developmental and epileptic encephalopathies other than EIMFS (non-EIMFS developmental and epileptic encephalopathies) (37 individuals, 17 unpublished); (iii) autosomal dominant or sporadic sleep-related hypermotor epilepsy (53 patients, 14 unpublished); and (iv) other phenotypes (six individuals, two unpublished). In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; (ii) in non-EIMFS developmental and epileptic encephalopathies, possible onset with West syndrome, occurrence of atypical absences, possible evolution to developmental and epileptic encephalopathies with sleep-related hypermotor epilepsy features; one case of sudden unexplained death in epilepsy; (iii) in autosomal dominant or sporadic sleep-related hypermotor epilepsy, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in ∼50% of the patients, sudden unexplained death in epilepsy

Published
2021

19. Efficacy, retention and tolerability of everolimus in patients with tuberous sclerosis complex: a survey-based study on patients’ perspectives

Author

Willems, Laurent Maximilian, 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-LeVan, Julia, Klein, Karl Martin, Klotz, Kerstin Alexandra, Kluger, Gerhard, Knake, Susanne, Knuf, Markus, Marquard, Klaus, Mayer, Thomas, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Podewils, Felix von, Ruf, Susanne, Sauter, Matthias, Schäfer, Hannah, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wiemer-Kruel, Adelheid, Wilken, Bernd, Zukunft, Bianca, Strzelczyk, Adam, Willems, Laurent Maximilian, 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-LeVan, Julia, Klein, Karl Martin, Klotz, Kerstin Alexandra, Kluger, Gerhard, Knake, Susanne, Knuf, Markus, Marquard, Klaus, Mayer, Thomas, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Podewils, Felix von, 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

Abstract

Background: The approval of everolimus (EVE) for the treatment of angiomyolipoma (2013), subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients with tuberous sclerosis complex (TSC) represents the first disease-modifying treatment option available for this rare and complex genetic disorder. Objective: The objective of this study was to analyse the use, efficacy, tolerability and treatment retention of EVE in patients with TSC in Germany from the patient’s perspective. Methods: A structured cross-age survey was conducted at 26 specialised TSC centres in Germany and by the German TSC patient advocacy group between February and July 2019, enrolling children, adolescents and adult patients with TSC. Results: Of 365 participants, 36.7% (n = 134) reported the current or past intake of EVE, including 31.5% (n = 115) who were taking EVE at study entry. The mean EVE dosage was 6.1 ± 2.9 mg/m2 (median: 5.6 mg/m2, range 2.0–15.1 mg/m2) in children and adolescents and 4 ± 2.1 mg/m2 (median: 3.7 mg/m2, range 0.8–10.1 mg/m2) in adult patients. An early diagnosis of TSC, the presence of angiomyolipoma, drug-refractory epilepsy, neuropsychiatric manifestations, subependymal giant cell astrocytoma, cardiac rhabdomyoma and overall multi-organ involvement were associated with the use of EVE as a disease-modifying treatment. The reported efficacy was 64.0% for angiomyolipoma (75% in adult patients), 66.2% for drug-refractory epilepsy, and 54.4% for subependymal giant cell astrocytoma. The overall retention rate for EVE was 85.8%. The retention rates after 12 months of EVE therapy were higher among adults (93.7%) than among children and adolescents (88.7%; 90.5% vs 77.4% after 24 months; 87.3% vs 77.4% after 36 months). Tolerability was acceptable, with 70.9% of patients overall reporting adverse events, including stomatitis (47.0%), acne-like rash (7.7%), increased susceptibility to common infections and lymphoedema (each 6.0%), which were the most f

Published
2021

20. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Author

Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido, Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, and Rubboli, Guido

Published
2021

21. Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature

Author

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

Published
2021
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24. Infantile Spasmen

Author

Hornemann, Frauke, additional, Weber, Franziska, additional, Beblo, Skadi, additional, and Merkenschlager, Andreas, additional

Published
2019
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25. Treatment Responsiveness in KCNT1-Related Epilepsy

Author

Genetica, Genetica Klinische Genetica, Fitzgerald, Mark P., Fiannacca, Martina, Smith, Douglas M., Gertler, Tracy S., Gunning, Boudewijn, Syrbe, Steffen, Verbeek, Nienke, Stamberger, Hannah, Weckhuysen, Sarah, Ceulemans, Berten, Schoonjans, An Sofie, Rossi, Massimiliano, Demarquay, Geneviève, Lesca, Gaetan, Olofsson, Kern, Koolen, D. A., Hornemann, Frauke, Baulac, Stephanie, Rubboli, Guido, Minks, Kelly Q., Lee, Bohoon, Helbig, Ingo, Dlugos, Dennis, Møller, Rikke S., Bearden, David, Genetica, Genetica Klinische Genetica, Fitzgerald, Mark P., Fiannacca, Martina, Smith, Douglas M., Gertler, Tracy S., Gunning, Boudewijn, Syrbe, Steffen, Verbeek, Nienke, Stamberger, Hannah, Weckhuysen, Sarah, Ceulemans, Berten, Schoonjans, An Sofie, Rossi, Massimiliano, Demarquay, Geneviève, Lesca, Gaetan, Olofsson, Kern, Koolen, D. A., Hornemann, Frauke, Baulac, Stephanie, Rubboli, Guido, Minks, Kelly Q., Lee, Bohoon, Helbig, Ingo, Dlugos, Dennis, Møller, Rikke S., and Bearden, David

Published
2019

26. Efficacy, retention, and tolerability of Brivaracetam in patients with epileptic encephalopathies : a multicenter cohort study from Germany

Author

Willems, Laurent M., Bertsche, Astrid, Bösebeck, Frank, Hornemann, Frauke, Immisch, Ilka, Klein, Karl M., Knake, Susanne, Kunz, Rhina, Kurlemann, Gerhard, Langenbruch, Lisa, Möddel, Gabriel, Müller-Schlüter, Karen, von Podewils, Felix, Reif, Philipp S., Steinhoff, Bernhard J., Steinig, Isabel, Rosenow, Felix, Schubert-Bast, Susanne, Strzelczyk, Adam, and Cendes, Fernando

Subjects
Neurology, levetiracetam, seizure, epileptic encephalopathies, anticonvulsants, epilepsy, ddc:610, Original Research
Abstract

Objective: To evaluate the efficacy and tolerability of brivaracetam (BRV) in a severely drug refractory cohort of patients with epileptic encephalopathies (EE). Method: A multicenter, retrospective cohort study recruiting all patients treated with EE who began treatment with BRV in an enrolling epilepsy center between 2016 and 2017. Results: Forty-four patients (27 male [61%], mean age 29 years, range 6 to 62) were treated with BRV. The retention rate was 65% at 3 months, 52% at 6 months and 41% at 12 months. A mean retention time of 5 months resulted in a cumulative exposure to BRV of 310 months. Three patients were seizure free during the baseline. At 3 months, 20 (45%, 20/44 as per intention-to-treat analysis considering all patients that started BRV including three who were seizure free during baseline) were either seizure free (n = 4; 9%, three of them already seizure-free at baseline) or reported at least 25% (n = 4; 9%) or 50% (n = 12; 27%) reduction in seizures. An increase in seizure frequency was reported in two (5%) patients, while there was no change in the seizure frequency of the other patients. A 50% long-term responder rate was apparent in 19 patients (43%), with two (5%) free from seizures for more than six months and in nine patients (20%, with one [2 %] free from seizures) for more than 12 months. Treatment-emergent adverse events were predominantly of psychobehavioural nature and were observed in 16%. Significance: In this retrospective analysis the rate of patients with a 50% seizure reduction under BRV proofed to be similar to those seen in regulatory trials for focal epilepsies. BRV appears to be safe and relatively well tolerated in EE and might be considered in patients with psychobehavioral adverse events while on levetiracetam.

Published
2018

28. Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Author

Büttner, Benjamin, primary, Martin, Sonja, additional, Finck, Anja, additional, Arelin, Maria, additional, Baade-Büttner, Carolin, additional, Bartolomaeus, Tobias, additional, Bauer, Peter, additional, Bertsche, Astrid, additional, Bernhard, Matthias K., additional, Biskup, Saskia, additional, Donato, Nataliya Di, additional, Elgizouli, Magdeldin, additional, Ewald, Roland, additional, Heine, Constanze, additional, Hellenbroich, Yorck, additional, Hentschel, Julia, additional, Hoffjan, Sabine, additional, Horn, Susanne, additional, Hornemann, Frauke, additional, Huhle, Dagmar, additional, Kamphausen, Susanne B., additional, Kiess, Wieland, additional, Krey, Ilona, additional, Kuechler, Alma, additional, Liesfeld, Ben, additional, Merkenschlager, Andreas, additional, Mitter, Diana, additional, Muschke, Petra, additional, Pfäffle, Roland, additional, Polster, Tilman, additional, Schanze, Ina, additional, Schlump, Jan-Ulrich, additional, Syrbe, Steffen, additional, Wieczorek, Dagmar, additional, Zenker, Martin, additional, Lemke, Johannes R., additional, Duc, Diana Le, additional, Platzer, Konrad, additional, and Jamra, Rami Abou, additional

Published
2019
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30. Efficacy, retention, and tolerability of Brivaracetam in patients with epileptic encephalopathies : a multicenter cohort study from Germany

Author

Cendes, Fernando, Willems, Laurent Maximilian, Bertsche, Astrid, Bösebeck, Frank, Hornemann, Frauke, Immisch, Ilka, Klein, Karl Martin, Knake, Susanne, Kunz, Rhina, Kurlemann, Gerhard, Langenbruch, Lisa Marie, Möddel, Gabriel, Müller-Schlüter, Karen, Podewils, Felix von, Reif, Philipp Sebastian, Steinhoff, Bernhard J., Steinig, Isabel, Rosenow, Felix, Schubert-Bast, Susanne, Strzelczyk, Adam, Cendes, Fernando, Willems, Laurent Maximilian, Bertsche, Astrid, Bösebeck, Frank, Hornemann, Frauke, Immisch, Ilka, Klein, Karl Martin, Knake, Susanne, Kunz, Rhina, Kurlemann, Gerhard, Langenbruch, Lisa Marie, Möddel, Gabriel, Müller-Schlüter, Karen, Podewils, Felix von, Reif, Philipp Sebastian, Steinhoff, Bernhard J., Steinig, Isabel, Rosenow, Felix, Schubert-Bast, Susanne, and Strzelczyk, Adam

Abstract

Objective: To evaluate the efficacy and tolerability of brivaracetam (BRV) in a severely drug refractory cohort of patients with epileptic encephalopathies (EE). Method: A multicenter, retrospective cohort study recruiting all patients treated with EE who began treatment with BRV in an enrolling epilepsy center between 2016 and 2017. Results: Forty-four patients (27 male [61%], mean age 29 years, range 6 to 62) were treated with BRV. The retention rate was 65% at 3 months, 52% at 6 months and 41% at 12 months. A mean retention time of 5 months resulted in a cumulative exposure to BRV of 310 months. Three patients were seizure free during the baseline. At 3 months, 20 (45%, 20/44 as per intention-to-treat analysis considering all patients that started BRV including three who were seizure free during baseline) were either seizure free (n = 4; 9%, three of them already seizure-free at baseline) or reported at least 25% (n = 4; 9%) or 50% (n = 12; 27%) reduction in seizures. An increase in seizure frequency was reported in two (5%) patients, while there was no change in the seizure frequency of the other patients. A 50% long-term responder rate was apparent in 19 patients (43%), with two (5%) free from seizures for more than six months and in nine patients (20%, with one [2 %] free from seizures) for more than 12 months. Treatment-emergent adverse events were predominantly of psychobehavioural nature and were observed in 16%. Significance: In this retrospective analysis the rate of patients with a 50% seizure reduction under BRV proofed to be similar to those seen in regulatory trials for focal epilepsies. BRV appears to be safe and relatively well tolerated in EE and might be considered in patients with psychobehavioral adverse events while on levetiracetam.

Published
2018

31. Childhood Dystonia-Parkinsonism Following Infantile Spasms—Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.

Author

Hornemann, Frauke, Le Duc, Diana, Roth, Christian, Pfäffle, Roland, Huhle, Dagmar, and Merkenschlager, Andreas

Subjects
*INFANTILE spasms, *DIFFUSION magnetic resonance imaging, *CEREBROSPINAL fluid examination, *PRECOCIOUS puberty, *EARLY diagnosis, *NEURODEGENERATION
Abstract

Introduction Beta-propeller protein-associated neurodegeneration (BPAN) is a very rare, X-linked dominant (XLD) inherited member of the neurodegeneration with brain iron accumulation (NBIA) disease family. Case report We present a female case of BPAN with infantile spasms in the first year, Rett-like symptomatology, focal epilepsy, and loss of motor skills in childhood. Menarche occurred at the age of 9, after precocious pubarche and puberty. Dystonia-parkinsonism as extrapyramidal sign at the age of 10 years resulted in radiological and genetic work-up. Results Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS) measured 66/120 points in body part-related dystonia symptoms. Cerebrospinal fluid examination showed dopamine depletion. T2 and B0 sequences of the diffusion-weighted magnetic resonance imaging showed susceptibility artifacts with NBIA-typical hypointense globus pallidus (GP) and substantia nigra (SN). Next-generation sequencing revealed a BPAN-causing pathogenic variant in WDR45 (WD repeat-containing protein 45) gene (c.830 + 1G > A, XLD, heterozygous, de novo). Skewed X-inactivation was measured (2:98). Conclusions Autophagy-related X-linked BPAN disease might still be underdiagnosed in female cases of infantile spasms. Skewed X-inactivation will have mainly influenced the uncommon, very early childhood neurodegenerative symptomatology in the present BPAN case. Oral levodopa substitution led to improvement in sleep disorder, hypersalivation, and swallowing. Reduced white matter and hypointense signals in SN and GP on susceptibility sequences in magnetic resonance imaging are characteristic radiological findings of advanced disease in NBIA. No BPAN-typical halo sign in T1-weighted scan at midbrain level was seen at the age of 11 years. NBIA panel is recommended for early diagnosis. [ABSTRACT FROM AUTHOR]

Published
2020
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32. Efficacy, Retention, and Tolerability of Brivaracetam in Patients With Epileptic Encephalopathies: A Multicenter Cohort Study From Germany

Author

Willems, Laurent M., primary, Bertsche, Astrid, additional, Bösebeck, Frank, additional, Hornemann, Frauke, additional, Immisch, Ilka, additional, Klein, Karl M., additional, Knake, Susanne, additional, Kunz, Rhina, additional, Kurlemann, Gerhard, additional, Langenbruch, Lisa, additional, Möddel, Gabriel, additional, Müller-Schlüter, Karen, additional, von Podewils, Felix, additional, Reif, Philipp S., additional, Steinhoff, Bernhard J., additional, Steinig, Isabel, additional, Rosenow, Felix, additional, Schubert-Bast, Susanne, additional, and Strzelczyk, Adam, additional

Published
2018
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33. How do Parents Perceive the Initial Medical Consultation on their Child’s Developmental Disorder?

Author

Hotopp, Lena, additional, Spindler, Ulrike, additional, Bach, Vivien, additional, Hornemann, Frauke, additional, Syrbe, Steffen, additional, Andreas, Anna, additional, Merkenschlager, Andreas, additional, Kiess, Wieland, additional, Bernhard, Matthias, additional, Bertsche, Thilo, additional, Neininger, Martina, additional, and Bertsche, Astrid, additional

Published
2017
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34. Delineating SPTAN1 associated phenotypes: From isolated epilepsy to encephalopathy with progressive brain atrophy

Author

Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Genetica Groep Koeleman, Brain, Circulatory Health, Syrbe, Steffen, Harms, Frederike L., Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L., Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, Van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O., Hoffmann, Georg F., Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, G. Christoph, Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E., Møller, Rikke S., Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B., Lemke, Johannes R., Kutsche, Kerstin, Battaglia, Domenica, Guerrini, Renzo, Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Genetica Groep Koeleman, Brain, Circulatory Health, Syrbe, Steffen, Harms, Frederike L., Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L., Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, Van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O., Hoffmann, Georg F., Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, G. Christoph, Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E., Møller, Rikke S., Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B., Lemke, Johannes R., Kutsche, Kerstin, Battaglia, Domenica, and Guerrini, Renzo

Published
2017

35. Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A

Author

Syrbe, Steffen, primary, Zhorov, Boris S., additional, Bertsche, Astrid, additional, Bernhard, Matthias K., additional, Hornemann, Frauke, additional, Mütze, Ulrike, additional, Hoffmann, Jessica, additional, Hörtnagel, Konstanze, additional, Kiess, Wieland, additional, Hirsch, Franz W., additional, Lemke, Johannes R., additional, and Merkenschlager, Andreas, additional

Published
2016
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