Search

Your search keyword '"Opp, Joachim"' showing total 26 results
Start Over Author "Opp, Joachim"
26 results on '"Opp, Joachim"'

8. Genotype–phenotype correlation and treatment effects in young patients withGNAO1-associated disorders

Author

Thiel, Moritz, primary, Bamborschke, Daniel, additional, Janzarik, Wibke G., additional, Assmann, Birgit, additional, Zittel, Simone, additional, Patzer, Steffi, additional, Auhuber, Andrea, additional, Opp, Joachim, additional, Matzker, Eva, additional, Bevot, Andrea, additional, Seeger, Juergen, additional, van Baalen, Andreas, additional, Stüve, Burkhard, additional, Brockmann, Knut, additional, Cirak, Sebahattin, additional, and Koy, Anne, additional

Published
2023
Full Text
View/download PDF

9. Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.

Author

Thiel, Moritz, Bamborschke, Daniel, Janzarik, Wibke G., Assmann, Birgit, Zittel, Simone, Patzer, Steffi, Auhuber, Andrea, Opp, Joachim, Matzker, Eva, Bevot, Andrea, Seeger, Juergen, van Baalen, Andreas, Stüve, Burkhard, Brockmann, Knut, Cirak, Sebahattin, and Koy, Anne

Subjects
EPILEPSY, MEDICAL ethics, AMINO acid sequence, CELLULAR signal transduction, NASOENTERAL tubes, PROTEIN structure prediction
Published
2023
Full Text
View/download PDF

11. Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy

Author

Rinné, Susanne, primary, Stallmeyer, Birgit, additional, Pinggera, Alexandra, additional, Netter, Michael F., additional, Matschke, Lina A., additional, Dittmann, Sven, additional, Kirchhefer, Uwe, additional, Neudorf, Ulrich, additional, Opp, Joachim, additional, Striessnig, Jörg, additional, Decher, Niels, additional, and Schulze-Bahr, Eric, additional

Published
2022
Full Text
View/download PDF

14. Medizinische und gesprächslinguistische Perspektiven auf Arzt-Patient-Gespräche mit Kindern und Jugendlichen

Author

Knerich, Heike, Opp, Joachim, Iakushevich, Marina, Ilg, Yvonne, and Schnedermann, Theresa

Abstract

In diesem Beitrag wird die interdisziplinäre Zusammenarbeit zwischenMedizin und Linguistik, genauer Kinderneurologie/Epileptologie und klinischerGesprächslinguistik, anhand des Projekts„Linguistische Differenzialtypologievon epileptischen und nicht epileptischen Anfällen bei jugendlichen Patienten“exemplifiziert. Damit wird fokussiert und veranschaulicht, wie eine konversati-onsanalytisch basierte Auswertung von Arzt-Patient-Gesprächen einen direktendiagnostischen Nutzen haben kann.

Published
2021

15. The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

Author

Döring, Jan Henje, primary, Saffari, Afshin, additional, Bast, Thomas, additional, Brockmann, Knut, additional, Ehrhardt, Laura, additional, Fazeli, Walid, additional, Janzarik, Wibke G., additional, Kluger, Gerhard, additional, Muhle, Hiltrud, additional, Møller, Rikke S., additional, Platzer, Konrad, additional, Santos, Joana Larupa, additional, Bache, Iben, additional, Bertsche, Astrid, additional, Bonfert, Michaela, additional, Borggräfe, Ingo, additional, Broser, Philip J., additional, Datta, Alexandre N., additional, Hammer, Trine Bjørg, additional, Hartmann, Hans, additional, Hasse-Wittmer, Anette, additional, Henneke, Marco, additional, Kühne, Hermann, additional, Lemke, Johannes R., additional, Maier, Oliver, additional, Matzker, Eva, additional, Merkenschlager, Andreas, additional, Opp, Joachim, additional, Patzer, Steffi, additional, Rostasy, Kevin, additional, Stark, Birgit, additional, Strzelczyk, Adam, additional, von Stülpnagel, Celina, additional, Weber, Yvonne, additional, Wolff, Markus, additional, Zirn, Birgit, additional, Hoffmann, Georg Friedrich, additional, Kölker, Stefan, additional, and Syrbe, Steffen, additional

Published
2020
Full Text
View/download PDF

18. The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

Author

Doering, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Kluger, Gerhard, Muhle, Hiltrud, Moller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Bache, Iben, Bertsche, Astrid, Bonfert, Michaela, Borggraefe, Ingo, Broser, Philip J., Datta, Alexandre N., Hammer, Trine Bjorg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kuehne, Hermann, Lemke, Johannes R., Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, von Stuelpnagel, Celina, Weber, Yvonne, Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Koelker, Stefan, Syrbe, Steffen, Doering, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Kluger, Gerhard, Muhle, Hiltrud, Moller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Bache, Iben, Bertsche, Astrid, Bonfert, Michaela, Borggraefe, Ingo, Broser, Philip J., Datta, Alexandre N., Hammer, Trine Bjorg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kuehne, Hermann, Lemke, Johannes R., Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, von Stuelpnagel, Celina, Weber, Yvonne, Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Koelker, Stefan, and Syrbe, Steffen

Abstract

Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far. We collected detailed genetic and phenotypic data of 40 previously unreported patients from 36 families. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2. The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. In addition to known variants, we report the novel variant c.843G>T, p.(Trp281Cys) that co-segregated with benign infantile epilepsy and migraine in one family. Our study highlights the variability of clinical presentations of patients harboring pathogenic PRRT2 variants and expands the associated phenotypic spectrum.

Published
2020

19. The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood

Author

Döring, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke Gesine, Kluger, Gerhard, Muhle, Hiltrud, Møller, Rikke S., Platzer, Konrad, Larupa Santos, Joana, Bache, Iben, Bertsche, Astrid, Bonfert, Michaela, Borggräfe, Ingo, Broser, Philip Julian, Datta, Alexandre N., Hammer, Trine Bjørg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kühne, Hermann, Lemke, Johannes Rudolph, Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, Stülpnagel, Celina von, Weber, Yvonne G., Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Kölker, Stefan, Syrbe, Steffen, Döring, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke Gesine, Kluger, Gerhard, Muhle, Hiltrud, Møller, Rikke S., Platzer, Konrad, Larupa Santos, Joana, Bache, Iben, Bertsche, Astrid, Bonfert, Michaela, Borggräfe, Ingo, Broser, Philip Julian, Datta, Alexandre N., Hammer, Trine Bjørg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kühne, Hermann, Lemke, Johannes Rudolph, Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, Stülpnagel, Celina von, Weber, Yvonne G., Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Kölker, Stefan, and Syrbe, Steffen

Abstract

Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far. We collected detailed genetic and phenotypic data of 40 previously unreported patients from 36 families. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2. The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. In addition to known variants, we report the novel variant c.843G>T, p.(Trp281Cys) that co-segregated with benign infantile epilepsy and migraine in one family. Our study highlights the variability of clinical presentations of patients harboring pathogenic PRRT2 variants and expands the associated phenotypic spectrum.

Published
2020

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

Author

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

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results