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669 results on '"Kaindl, Angela M."'

1. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Author

Schmidt, Axel, Danyel, Magdalena, Grundmann, Kathrin, Brunet, Theresa, Klinkhammer, Hannah, Hsieh, Tzung-Chien, Engels, Hartmut, Peters, Sophia, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Boschann, Felix, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, Reuner, Ulrike, Hanßke, Amalia-Mihaela, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Kuechler, Alma, Cordula, Kiewert, Hirtz, Raphael, Schlapakow, Elena, Schlein, Christian, Lisfeld, Jasmin, Kubisch, Christian, Herget, Theresia, Hempel, Maja, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Rudolph, Cornelia, Rillig, Franziska, Groffmann, Maximilian, Muntau, Ania, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Kaufmann, Lilian, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, and Wagner, Matias

Published
2024
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10. Synapsin autoantibodies during pregnancy are associated with fetal abnormalities

Author

Bünger, Isabel, Talucci, Ivan, Kreye, Jakob, Höltje, Markus, Makridis, Konstantin L., Rasmussen, Helle Foverskov, van Hoof, Scott, Cordero-Gomez, César, Ullrich, Tim, Sedlin, Eva, Kreissner, Kai Oliver, Hoffmann, Christian, Milovanovic, Dragomir, Turko, Paul, Paul, Friedemann, Meckies, Jessica, Verlohren, Stefan, Henrich, Wolfgang, Chaoui, Rabih, Maric, Hans Michael, Kaindl, Angela M., and Prüss, Harald

Published
2023
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15. LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.

Author

Horn, Svea, Neuhann, Teresa, Hennig, Corina, Abad-Perez, Angela, Prott, Eva-Christina, Cardellini, Lisa, Potratz, Cornelia, Leubner, Jonas, Eichhorn, Birgit, Merkel, Martin, Abicht, Angela, and Kaindl, Angela M.

Subjects
GENETIC variation, REGULATOR genes, NOONAN syndrome, PANEL analysis, NEUROFIBROMATOSIS 1
Abstract

Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene (LZTR1) have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of LZTR1 variants. We identified four loss-of-function heterozygous LZTR1 variants in five children with multiple café au lait macules and one adult with multiple café au lait macules and axillar freckling, by applying gene panel analysis in four families. The three LZTR1 variants, namely, c.184del/p.Glu62Serfs*39, c.1927C < T/p.Gln643*, and c.857_858delinsT/p. Gly286Valfs*65, were novel, whereas the variant c.1018C > T/p.Arg340* had been previously reported in a patient with schwannomatosis. Similar to what is known from other LZTR1-associated conditions, penetrance of the skin manifestations was reduced in two carriers of the familial variants. Our study expands the LZTR1 phenotype to the presence of isolated café au lait macules with or without freckling. Thus, variants in the LZTR1 gene should be considered in patients with multiple café au lait macules. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Analysis of bihemispheric language function in pediatric neurosurgical patients using repetitive navigated transcranial magnetic stimulation

Author

Rosenstock, Tizian, primary, Schneider, Heike, additional, Neymeyer, Mitra Lara, additional, Becker, Lena-Luise, additional, Schulz, Bettina, additional, Tietze, Anna, additional, Hernáiz Driever, Pablo, additional, Kaindl, Angela M., additional, Vajkoczy, Peter, additional, Picht, Thomas, additional, and Thomale, Ulrich-Wilhelm, additional

Published
2024
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23. Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma—A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease.

Author

Viezens, Ingeborg, Knierim, Ellen, Deubzer, Hedwig E., Hauptmann, Kathrin, Fassbender, Jessica, Morales-Gonzalez, Susanne, Kaindl, Angela M., Schuelke, Markus, and Nikolaus, Marc

Subjects
NON-Hodgkin's lymphoma, RESEARCH funding, PARANEOPLASTIC syndromes, GENE expression, PEDIATRICS, NEUROLOGICAL disorders, IMMUNOHISTOCHEMISTRY, RNA, AUTOIMMUNE diseases, HODGKIN'S disease, SEQUENCE analysis
Abstract

Simple Summary: Autoantibodies against the metabotropic glutamate receptor 5 (mGluR5) have been linked to Ophelia syndrome, a combination of limbic encephalitis and Hodgkin lymphoma (HL). We studied mGluR5 expression in 57 pediatric HL and NHL by immunohistochemistry to explore the relationship between mGluR5 antibody formation and HL. All lymphoma tissues displayed mGluR5 staining, especially HL Reed–Sternberg cells. There was no staining in age-matched healthy lymph nodes, and we did not find GRM5 transcripts in RNA-sequencing data from normal lymphocytes. Lower mGluR5 levels in HL correlated with younger patients and EBV-positive tumors. Cases of paraneoplastic and neurological symptoms were found exclusively in the HL cohort. The frequent presence of mGluR5 in lymphoma tissue suggests a possible role in tumor development. This finding is in line with reports that glutamatergic signaling affects the outcome in other cancers. However, further studies in larger cohorts are needed to evaluate the impact of mGluR5 on HL severity. Autoantibodies targeting the neuronal antigen metabotropic glutamate receptor 5 (mGluR5) have been identified in patients with Ophelia syndrome, which describes a co-occurrence of paraneoplastic limbic encephalitis and Hodgkin lymphoma (HL). Little data exist regarding frequency and function of mGluR5 in HL and its potential role in causing seropositive paraneoplastic disease. We studied a representative cohort of pediatric HL and NHL patients (n = 57) using immunohistochemistry and fluorescence staining to investigate mGluR5 expression. All lymphoma tissues displayed positive mGluR5 staining, with focus on Hodgkin–Reed–Sternberg (H-RS) cells. We did not detect any mGluR5 staining in tumor-free lymph nodes, which is consistent with the absence of GRM5 transcripts in RNA-sequencing data from non-malignant B and T cells. The frequent presence in pediatric lymphoma falls in line with reports of mGluR5 expression and associated tumor progression in other malignancies. We tested for correlation with clinical features, focusing on disease progression and neurological symptoms. Low mGluR5 expression in H-RS cells correlated with young patient age (<15 years) and positive histology for EBV infection. Paraneoplastic or neurological symptoms were found exclusively in HL patients. While an impact of mGluR5 on HL severity remains possible, a prognostic value of mGluR5 expression levels requires further investigation. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

Author

Mohassel, Payam, Chang, Ning, Inoue, Kaoru, Delaney, Angela, Hu, Ying, Donkervoort, Sandra, Saade, Dimah, Billioux, B. Jeanne, Meader, Brooke, Volochayev, Rita, Konersman, Chamindra G., Kaindl, Angela M., Cho, Chie-Hee, Russell, Bianca, Rodriguez, Adrian, Foster, K. Wade, Foley, A. Reghan, Moore, Steven A., Jones, Peter L., Bonnemann, Carsten G., Jones, Takako, and Shaw, Natalie D.

Published
2022
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29. The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

Author

Becker, Lena-Luise, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya, von der Hagen, Maja, and Cirak, Sebahattin

Published
2020
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32. Short- and Long-Delay Consolidation of Memory Accessibility and Precision Across Childhood and Young Adulthood.

Author

Schommartz, Iryna, Kaindl, Angela M., Buss, Claudia, and Shing, Yee Lee

Subjects
*MEMORY in children, *STATISTICAL power analysis, *EPISODIC memory, *DESCRIPTIVE statistics, *MEMORY, *ACCURACY, *SHORT-term memory, *COMPARATIVE studies, *ASSOCIATIVE memory (Psychology)
Abstract

Childhood is a period when memory consolidation and knowledge base undergo rapid changes. The present study examined short-delay (overnight) and long-delay (after a 2-week period) consolidation of new information either congruent or incongruent with prior knowledge in typically developing 6- to 8-year-old children (n = 32), 9- to 11-year-old children (n = 33), and 18- to 30-year-old young adults (YA; n = 39). Both memory accessibility (cued recall of objects) and precision (precision of object placement) of initially well-learned object–scene pairs were measured. Our results showed that overnight, memory accessibility declined similarly in all age groups; memory precision improved more in younger children (YC) compared to older children (OC) and even declined in YA. After a 2-week period, both memory accessibility and precision became worse. Specifically, while age groups showed similar decline in memory accessibility, precision decline was less in YC than in OC and YA. The accessibility and precision of congruent and incongruent information changed similarly with consolidation in all age groups. Taken together, our results showed that, for initially well-learned information, YC have robust memory consolidation, despite their overall lower mnemonic performance compared to OC and YA, which is potentially crucial for stable and precise knowledge accumulation early on in development. Public Significance Statement: This study suggests that children can access well-learned information and retain its precision over long delays, indicating robust memory consolidation. It is not guided by congruency bias, suggesting equal weighting of incoming information and flexible schema formation. Because rapid accumulation of knowledge in children is crucial for later academic success, understanding how memories are retained as time passes is important for promoting successful and effective learning across different developmental groups. [ABSTRACT FROM AUTHOR]

Published
2024
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36. G protein–coupled receptor kinase 2 and group I metabotropic glutamate receptors mediate inflammation‐induced sensitization to excitotoxic neurodegeneration

Author

Degos, Vincent, Peineau, Stéphane, Nijboer, Cora, Kaindl, Angela M, Sigaut, Stéphanie, Favrais, Géraldine, Plaisant, Frank, Teissier, Natacha, Gouadon, Elodie, Lombet, Alain, Saliba, Elie, Collingridge, Graham L, Maze, Mervyn, Nicoletti, Ferdinando, Heijnen, Cobi, Mantz, Jean, Kavelaars, Annemieke, and Gressens, Pierre

Subjects
Pediatric, Neurosciences, Brain Disorders, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Analysis of Variance, Animals, Animals, Newborn, Calcium, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cerebral Cortex, Cytokines, Disease Models, Animal, Excitatory Amino Acid Agonists, Female, G-Protein-Coupled Receptor Kinase 2, Gene Expression Regulation, Glial Fibrillary Acidic Protein, Humans, Ibotenic Acid, Inflammation, Interleukin-1beta, Lipopolysaccharides, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Neurodegenerative Diseases, Neurons, Neurotoxicity Syndromes, Phospholipase C beta, Pregnancy, Prenatal Exposure Delayed Effects, Rats, Receptors, Metabotropic Glutamate, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectiveThe concept of inflammation-induced sensitization is emerging in the field of perinatal brain injury, stroke, Alzheimer disease, and multiple sclerosis. However, mechanisms underpinning this process remain unidentified.MethodsWe combined in vivo systemic lipopolysaccharide-induced or interleukin (IL)-1β-induced sensitization of neonatal and adult rodent cortical neurons to excitotoxic neurodegeneration with in vitro IL-1β sensitization of human and rodent neurons to excitotoxic neurodegeneration. Within these inflammation-induced sensitization models, we assessed metabotropic glutamate receptors (mGluR) signaling and regulation.ResultsWe demonstrate for the first time that group I mGluRs mediate inflammation-induced sensitization to neuronal excitotoxicity in neonatal and adult neurons across species. Inflammation-induced G protein-coupled receptor kinase 2 (GRK2) downregulation and genetic deletion of GRK2 mimicked the sensitizing effect of inflammation on excitotoxic neurodegeneration. Thus, we identify GRK2 as a potential molecular link between inflammation and mGluR-mediated sensitization.InterpretationCollectively, our findings indicate that inflammation-induced sensitization is universal across species and ages and that group I mGluRs and GRK2 represent new avenues for neuroprotection in perinatal and adult neurological disorders.

Published
2013

38. Epilepsy surgery in early infancy: A retrospective, multicenter study

Author

Makridis, Konstantin L., primary, Klotz, Kerstin Alexandra, additional, Ramantani, Georgia, additional, Becker, Lena‐Luise, additional, San Antonio‐Arce, Victoria, additional, Syrbe, Steffen, additional, Wagner, Kathrin, additional, Shah, Mukesch Johannes, additional, Thomale, Ulrich‐Wilhelm, additional, Tietze, Anna, additional, Elger, Christian E., additional, Borggraefe, Ingo, additional, and Kaindl, Angela M., additional

Published
2023
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41. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Author

Schmidt, Axel, primary, Danyel, Magdalena, additional, Grundmann, Kathrin, additional, Brunet, Theresa, additional, Klinkhammer, Hannah, additional, Hsieh, Tzung-Chien, additional, Engels, Hartmut, additional, Peters, Sophia, additional, Knaus, Alexej, additional, Moosa, Shahida, additional, Averdunk, Luisa, additional, Boschann, Felix, additional, Sczakiel, Henrike, additional, Schwartzmann, Sarina, additional, Mensah, Martin Atta, additional, Pantel, Jean Tori, additional, Holtgrewe, Manuel, additional, Boesch, Annemarie, additional, Weiss, Claudia, additional, Weinhold, Natalie, additional, Suter, Aude-Annick, additional, Stoltenburg, Corinna, additional, Neugebauer, Julia, additional, Kallinich, Tillmann, additional, Kaindl, Angela M., additional, Holzhauer, Susanne, additional, Buehrer, Christoph, additional, Bufler, Philip, additional, Kornak, Uwe, additional, Ott, Claus-Eric, additional, Schuelke, Markus, additional, Nguyen, Hoa Huu Phuc, additional, Hoffjan, Sabine, additional, Grasemann, Corinna, additional, Rothoeft, Tobias, additional, Brinkmann, Folke, additional, Matar, Nora, additional, Sivalingam, Sugirthan, additional, Perne, Claudia, additional, Mangold, Elisabeth, additional, Kreiss, Martina, additional, Cremer, Kirsten, additional, Betz, Regina C., additional, Bender, Tim, additional, Muecke, Martin, additional, Grigull, Lorenz, additional, Klockgether, Thomas, additional, Isabel, Spier, additional, Heimbach, Andre, additional, Tim, Bender, additional, Brand, Fabian, additional, Stieber, Christiane, additional, Morawiec, Alexandra Marzena, additional, Karakostas, Pantelis, additional, Schaefer, Valentin S., additional, Bernsen, Sarah, additional, Weydt, Patrick, additional, Castro-Gomez, Sergio, additional, Aziz, Ahmad, additional, Grobe-Einsler, Marcus, additional, Kimmich, Okka, additional, Kobeleva, Xenia, additional, oender, Demet, additional, Lesmann, Hellen, additional, Kumar, Sheetal, additional, Tacik, Pawel, additional, Lee-Kirsch, Min Ae, additional, Berner, Reinhard, additional, Schuetz, Catharina, additional, Koerholz, Julia, additional, Kretschmer, Tanita, additional, Di Donato, Nataliya, additional, Schroeck, Evelin, additional, Heinen, Andre, additional, Reuner, Ulrike, additional, Hansske, Amalia-Mihaela, additional, Kaiser, Frank J., additional, Manka, Eva, additional, Munteanu, Martin, additional, Kuechler, Alma, additional, Cordula, Kiewert, additional, Hirtz, Raphael, additional, Schlapakow, Elena, additional, Schlein, Christian, additional, Lisfeld, Jasmin, additional, Kubisch, Christian, additional, Herget, Theresia, additional, Hempel, Maja, additional, Weiler-Normann, Christina, additional, Ullrich, Kurt, additional, Schramm, Christoph, additional, Rudolph, Cornelia, additional, Rillig, Franziska, additional, Groffmann, Maximilian, additional, Muntau, Ania, additional, Tibelius, Alexandra, additional, Schwaibold, Eva M. C., additional, Schaaf, Christian P., additional, Zawada, Michal, additional, Kaufmann, Lilian, additional, Hinderhofer, Katrin, additional, Okun, Pamela M., additional, Kotzaeridou, Urania, additional, Hoffmann, Georg F., additional, Choukair, Daniela, additional, Bettendorf, Markus, additional, Spielmann, Malte, additional, Ripke, Annekatrin, additional, Pauly, Martje, additional, Muenchau, Alexander, additional, Lohmann, Katja, additional, Huening, Irina, additional, Hanker, Britta, additional, Baeumer, Tobias, additional, Herzog, Rebecca, additional, Hellenbroich, Yorck, additional, Westphal, Dominik S., additional, Strom, Tim, additional, Kovacs, Reka, additional, Riedhammer, Korbinian M., additional, Mayerhanser, Katharina, additional, Graf, Elisabeth, additional, Brugger, Melanie, additional, Hoefele, Julia, additional, Oexle, Konrad, additional, Mirza-Schreiber, Nazanin, additional, Berutti, Riccardo, additional, Schatz, Ulrich, additional, Krenn, Martin, additional, Makowski, Christine, additional, Weigand, Heike, additional, Schroeder, Sebastian, additional, Rohlfs, Meino, additional, Katharina, Vill, additional, Hauck, Fabian, additional, Borggraefe, Ingo, additional, Mueller-Felber, Wolfgang, additional, Kurth, Ingo, additional, Elbracht, Miriam, additional, Knopp, Cordula, additional, Begemann, Matthias, additional, Kraft, Florian, additional, Lemke, Johannes, additional, Hentschel, Julia, additional, Platzer, Konrad, additional, Strehlow, Vincent, additional, Abou Jamra, Rami, additional, Kehrer, Martin, additional, Demidov, German, additional, Beck-Woedl, Stefanie, additional, Graessner, Holm, additional, Sturm, Marc, additional, Zeltner, Lena, additional, Schoels, Ludger J., additional, Magg, Janine, additional, Bevot, Andrea, additional, Kehrer, Christiane, additional, Kaiser, Nadja, additional, Horn, Denise, additional, Grueters-Kieslich, Annette, additional, Klein, Christoph, additional, Mundlos, Stefan, additional, Noethen, Markus, additional, Riess, Olaf, additional, Meitinger, Thomas, additional, Krude, Heiko, additional, Krawitz, Peter M., additional, Haack, Tobias, additional, Ehmke, Nadja, additional, and Wagner, Matias, additional

Published
2023
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44. Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

Author

Nikolaus, Marc, primary, Rausch, Philipp, additional, Rostásy, Kevin, additional, Bertolini, Annikki, additional, Wickström, Ronny, additional, Johannsen, Jessika, additional, Denecke, Jonas, additional, Breu, Markus, additional, Schimmel, Mareike, additional, Diepold, Katharina, additional, Haeusler, Martin, additional, Quade, Annegret, additional, Berger, Andrea, additional, Rosewich, Hendrik, additional, Steen, Claudia, additional, von Au, Katja, additional, Dreesmann, Mona, additional, Finke, Carsten, additional, Bartels, Frederik, additional, Kaindl, Angela M., additional, Schuelke, Markus, additional, and Knierim, Ellen, additional

Published
2023
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46. WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Author

Oliver, Karen L., primary, Trivisano, Marina, additional, Mandelstam, Simone A., additional, De Dominicis, Angela, additional, Francis, David I., additional, Green, Timothy E., additional, Muir, Alison M., additional, Chowdhary, Apoorva, additional, Hertzberg, Christoph, additional, Goldhahn, Klaus, additional, Metreau, Julia, additional, Prager, Christine, additional, Pinner, Jason, additional, Cardamone, Michael, additional, Myers, Kenneth A., additional, Leventer, Richard J., additional, Lesca, Gaetan, additional, Bahlo, Melanie, additional, Hildebrand, Michael S., additional, Mefford, Heather C., additional, Kaindl, Angela M., additional, Specchio, Nicola, additional, and Scheffer, Ingrid E., additional

Published
2023
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48. Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy

Author

Horn, Svea, Danyel, Magdalena, Erdmann, Nina, Boschann, Felix, Gunnarsson, Cecilia, Biskup, Saskia, Juengling, Jerome, Potratz, Cornelia, Prager, Christine, Kaindl, Angela M., Horn, Svea, Danyel, Magdalena, Erdmann, Nina, Boschann, Felix, Gunnarsson, Cecilia, Biskup, Saskia, Juengling, Jerome, Potratz, Cornelia, Prager, Christine, and Kaindl, Angela M.

Abstract

Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly in language development, behavioral abnormalities, and epilepsy. Only about 15 affected individuals have been described in the literature, all with primary or secondary macrocephaly. Using exome sequencing, we identified three different biallelic variants in KPTN in five affected individuals from three unrelated families. In total, two KPTN variants were already reported as a loss of function variants. A novel splice site variant in KPTN was detected in two unrelated families of this study. The core phenotype with neurodevelopment delay was present in all patients. However, macrocephaly was not present in at least one patient. In total, two patients exhibited developmental and epileptic encephalopathies with generalized tonic-clonic seizures that were drug-resistant in one of them. Thus, we further delineate the KPTN-related syndrome, especially emphasizing the severity of epilepsy phenotypes and difficulties in treatment in patients of our cohort.

Published
2023
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49. Distinct multivariate structural brain profiles are related to variations in short- and long-delay memory consolidation across children and young adults

Author

Schommartz, Iryna, Lembcke, Philip F., Pupillo, Francesco, Schuetz, Henriette, de Chamorro, Nina Wald, Bauer, Martin, Kaindl, Angela M., Buss, Claudia, Shing, Yee Lee, Schommartz, Iryna, Lembcke, Philip F., Pupillo, Francesco, Schuetz, Henriette, de Chamorro, Nina Wald, Bauer, Martin, Kaindl, Angela M., Buss, Claudia, and Shing, Yee Lee

Abstract

From early to middle childhood, brain regions that underlie memory consolidation undergo profound maturational changes. However, there is little empirical investigation that directly relates age-related differences in brain structural measures to memory consolidation processes. The present study examined memory consolidation of intentionally studied object-location associations after one night of sleep (short delay) and after two weeks (long delay) in normally developing 5-to-7-year-old children (n = 50) and young adults (n = 39). Behavioural differences in memory retention rate were related to structural brain measures. Our results showed that children, in comparison to young adults, retained correctly learnt object-location associations less robustly over short and long delay. Moreover, using partial least squares correlation method, a unique multivariate profile comprised of specific neocortical (prefrontal, parietal, and occipital), cerebellar, and hippocampal head and subfield structures in the body was found to be associated with variation in short-delay memory retention. A different multivariate profile comprised of a reduced set of brain structures, mainly consisting of neocortical (prefrontal, parietal, and occipital), hippocampal head, and selective hippocampal subfield structures (CA1-2 and subiculum) was associated with variation in long-delay memory retention. Taken together, the results suggest that multivariate structural pattern of unique sets of brain regions are related to variations in short-and long-delay memory consolidation across children and young adults.

Published
2023

50. Epilepsy surgery in early infancy: A retrospective, multicenter study

Author

Makridis, Konstantin L; https://orcid.org/0000-0002-2609-4557, Klotz, Kerstin Alexandra; https://orcid.org/0000-0002-1601-5384, Ramantani, Georgia; https://orcid.org/0000-0002-7931-2327, Becker, Lena-Luise; https://orcid.org/0000-0003-4622-8695, San Antonio-Arce, Victoria; https://orcid.org/0000-0002-2780-6560, Syrbe, Steffen, Wagner, Kathrin; https://orcid.org/0000-0003-2232-1684, Shah, Mukesch Johannes, Thomale, Ulrich-Wilhelm, Tietze, Anna, Elger, Christian E, Borggraefe, Ingo; https://orcid.org/0000-0002-8484-5945, Kaindl, Angela M; https://orcid.org/0000-0001-9454-206X, Makridis, Konstantin L; https://orcid.org/0000-0002-2609-4557, Klotz, Kerstin Alexandra; https://orcid.org/0000-0002-1601-5384, Ramantani, Georgia; https://orcid.org/0000-0002-7931-2327, Becker, Lena-Luise; https://orcid.org/0000-0003-4622-8695, San Antonio-Arce, Victoria; https://orcid.org/0000-0002-2780-6560, Syrbe, Steffen, Wagner, Kathrin; https://orcid.org/0000-0003-2232-1684, Shah, Mukesch Johannes, Thomale, Ulrich-Wilhelm, Tietze, Anna, Elger, Christian E, Borggraefe, Ingo; https://orcid.org/0000-0002-8484-5945, and Kaindl, Angela M; https://orcid.org/0000-0001-9454-206X

Abstract

Although epilepsy surgery is the only curative therapeutic approach for lesional drug-resistant epilepsy (DRE), there is reluctance to operate on infants due to a fear of complications. A recent meta-analysis showed that epilepsy surgery in the first 6 months of life can achieve seizure control in about two thirds of children. However, robust data on surgical complications and postoperative cognitive development are lacking. We performed a retrospective multicenter study of infants who underwent epilepsy surgery in the first 6 months of life. 15 infants underwent epilepsy surgery at a median age of 134 days (IQR: 58) at four centers. The most common cause was malformation of cortical development, and 13 patients underwent a hemispherotomy. Two thirds required intraoperative red blood transfusions. Severe intraoperative complications occurred in two patients including death in one infant due to cardiovascular insufficiency. At a median follow-up of 1.5 years (IQR: 1.8), 57% of patients were seizure-free. Three patients where reoperated at a later age, resulting in 79% seizure freedom. Anti-seizure medication could be reduced in two thirds, and all patients improved in their development. Our findings suggest that early epilepsy surgery can result in good seizure control and developmental improvement. However, given the perioperative risks, it should be performed only in specialized centers.

Published
2023

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