Pronounced reversible hyperammonemic encephalopathy associated with combined valproate–topiramate therapy in a 7-year-old girl

von Weise, Sebastian, Syrbe, Steffen, Preuss, Matthias, Bertsche, Astrid, Merkenschlager, Andreas, Bernhard, Matthias K
Veröffentlicht in Springerplus (2015)

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions

von Ademuwagun, Ibitayo Abigail, Rotimi, Solomon Oladapo, Syrbe, Steffen, Ajamma, Yvonne Ukamaka, Adebiyi, Ezekiel
Veröffentlicht in Front Neurol (2021)

Opsoclonus-myoclonus syndrome after adenovirus infection

von Syrbe, Steffen, Merkenschlager, Andreas, Bernhard, Matthias K., Grosche, Jens, Liebert, Uwe Gerd, Hirsch, Wolfgang, Härtig, Wolfgang
Veröffentlicht in Springerplus (2015)

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

von Schröter, Julian, Döring, Jan H., Garbade, Sven F., Hoffmann, Georg F., Kölker, Stefan, Ries, Markus, Syrbe, Steffen
Veröffentlicht in Genet Med (2020)

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

von Strehlow, Vincent, Swinkels, Marielle E.M., Thomas, Rhys H., Rapps, Nora, Syrbe, Steffen, Dorn, Thomas, Lemke, Johannes R.
Veröffentlicht in Mol Syndromol (2016)

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with m...

von Mütze, Ulrike, Bürger, Friederike, Hoffmann, Jessica, Tegetmeyer, Helmut, Heichel, Jens, Nickel, Petra, Lemke, Johannes R, Syrbe, Steffen, Beblo, Skadi
Veröffentlicht in Mol Genet Metab Rep (2016)

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

von Maljevic, Snezana, Vejzovic, Sabina, Bernhard, Matthias K., Bertsche, Astrid, Weise, Sebastian, Döcker, Miriam, Lerche, Holger, Lemke, Johannes R., Merkenschlager, Andreas, Syrbe, Steffen
Veröffentlicht in Mol Syndromol (2016)

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

von Syrbe, Steffen, Zhorov, Boris S., Bertsche, Astrid, Bernhard, Matthias K., Hornemann, Frauke, Mütze, Ulrike, Hoffmann, Jessica, Hörtnagel, Konstanze, Kiess, Wieland, Hirsch, Franz W., Lemke, Johannes R., Merkenschlager, Andreas
Veröffentlicht in Mol Syndromol (2016)

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

von Bayat, Allan, Pendziwiat, Manuela, Obersztyn, Ewa, Goldenberg, Paula, Zacher, Pia, Döring, Jan Henje, Syrbe, Steffen, Begtrup, Amber, Borovikov, Artem, Sharkov, Artem, Karasińska, Aneta, Giżewska, Maria, Mitchell, Wendy, Morava, Eva, Møller, Rikke S., Rubboli, Guido
Veröffentlicht in Front Genet (2021)

Stereotactically Injected Kv1.2 and CASPR2 Antisera Cause Differential Effects on CA1 Synaptic and Cellular Excitability, but Both Enhance the Vulnerability to Pro-epileptic Condit...

von Kirschstein, Timo, Sadkiewicz, Erika, Hund-Göschel, Gerda, Becker, Juliane, Guli, Xiati, Müller, Steffen, Rohde, Marco, Hübner, Dora-Charlotte, Brehme, Hannes, Kolbaske, Stephan, Porath, Katrin, Sellmann, Tina, Großmann, Annette, Wittstock, Matthias, Syrbe, Steffen, Storch, Alexander, Köhling, Rüdiger
Veröffentlicht in Front Synaptic Neurosci (2020)

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

von Döring, Jan H., Schröter, Julian, Jüngling, Jerome, Biskup, Saskia, Klotz, Kerstin A., Bast, Thomas, Dietel, Tobias, Korenke, G. Christoph, Christoph, Sophie, Brennenstuhl, Heiko, Rubboli, Guido, Møller, Rikke S., Lesca, Gaetan, Chaix, Yves, Kölker, Stefan, Hoffmann, Georg F., Lemke, Johannes R., Syrbe, Steffen
Veröffentlicht in Int J Mol Sci (2021)

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

von Saffari, Afshin, Brösse, Ines, Wiemer-Kruel, Adelheid, Wilken, Bernd, Kreuzaler, Paula, Hahn, Andreas, Bernhard, Matthias K., van Tilburg, Cornelis M., Hoffmann, Georg F., Gorenflo, Matthias, Hethey, Sven, Kaiser, Olaf, Kölker, Stefan, Wagner, Robert, Witt, Olaf, Merkenschlager, Andreas, Möckel, Andreas, Roser, Timo, Schlump, Jan-Ulrich, Serfling, Antje, Spiegler, Juliane, Milde, Till, Ziegler, Andreas, Syrbe, Steffen
Veröffentlicht in Orphanet J Rare Dis (2019)

Treatment Responsiveness in KCNT1-Related Epilepsy

von 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
Veröffentlicht in Neurotherapeutics (2019)

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

von XiangWei, Wenshu, Kannan, Varun, Xu, Yuchen, Kosobucki, Gabrielle J, Schulien, Anthony J, Kusumoto, Hirofumi, Moufawad El Achkar, Christelle, Bhattacharya, Subhrajit, Lesca, Gaetan, Nguyen, Sylvie, Helbig, Katherine L, Cuisset, Jean-Marie, Fenger, Christina Dühring, Marjanovic, Dragan, Schuler, Elisabeth, Wu, Ye, Bao, Xinhua, Zhang, Yuehua, Dirkx, Nina, Schoonjans, An-Sofie, Syrbe, Steffen, Myers, Scott J, Poduri, Annapurna, Aizenman, Elias, Traynelis, Stephen F, Lemke, Johannes R, Yuan, Hongjie, Jiang, Yuwu
Veröffentlicht in Brain (2019)

Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

von Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, Rostásy, Kevin
Veröffentlicht in J Neuroinflammation (2020)

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

von de Kovel, Carolien G. F., Syrbe, Steffen, Brilstra, Eva H., Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc, Saunders, Carol, Rook, Martin, Plugge, Susanna, Muhle, Hiltrud, Afawi, Zaid, Klein, Karl-Martin, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Goldberg, Ethan, Marsh, Eric, Kessler, Sudha, Bergqvist, Christina, Conlin, Laura K., Krok, Bryan L., Thiffault, Isabelle, Pendziwiat, Manuela, Helbig, Ingo, Polster, Tilman, Borggraefe, Ingo, Lemke, Johannes R., van den Boogaardt, Marie-José, Møller, Rikke S., Koeleman, Bobby P. C.
Veröffentlicht in JAMA Neurol (2017)

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

von 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, Strzelczyk, Adam
Veröffentlicht in Orphanet J Rare Dis (2021)

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

von Danhauser, Katharina, Alhaddad, Bader, Makowski, Christine, Piekutowska-Abramczuk, Dorota, Syrbe, Steffen, Gomez-Ospina, Natalia, Manning, Melanie A., Kostera-Pruszczyk, Anna, Krahn-Peper, Claudia, Berutti, Riccardo, Kovács-Nagy, Reka, Gusic, Mirjana, Graf, Elisabeth, Laugwitz, Lucia, Röblitz, Michaela, Wroblewski, Andreas, Hartmann, Hans, Das, Anibh M., Bültmann, Eva, Fang, Fang, Xu, Manting, Schatz, Ulrich A., Karall, Daniela, Zellner, Herta, Haberlandt, Edda, Feichtinger, René G., Mayr, Johannes A., Meitinger, Thomas, Prokisch, Holger, Strom, Tim M., Płoski, Rafał, Hoffmann, Georg F., Pronicki, Maciej, Bonnen, Penelope E., Morlot, Susanne, Haack, Tobias B.
Veröffentlicht in Am J Hum Genet (2018)

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

von Döring, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Kluger, Gerhard, Muhle, Hiltrud, Møller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Bache, Iben, Bertsche, Astrid, Bonfert, Michaela, Borggräfe, Ingo, Broser, Philip J., Datta, Alexandre N., Hammer, Trine Bjørg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kühne, Hermann, Lemke, Johannes R., Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, von Stülpnagel, Celina, Weber, Yvonne, Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Kölker, Stefan, Syrbe, Steffen
Veröffentlicht in Biomedicines (2020)

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

von Møller, Rikke S., Wuttke, Thomas V., Helbig, Ingo, Marini, Carla, Johannesen, Katrine M., Brilstra, Eva H., Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L., Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T., Larsen, Line H.G., Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L., Dahl, Hans A., Tommerup, Niels, Mefford, Heather C., Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R., Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana
Veröffentlicht in Neurology (2017)