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

por Weise, Sebastian, Syrbe, Steffen, Preuss, Matthias, Bertsche, Astrid, Merkenschlager, Andreas, Bernhard, Matthias K
Publicado 2015

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

por Ademuwagun, Ibitayo Abigail, Rotimi, Solomon Oladapo, Syrbe, Steffen, Ajamma, Yvonne Ukamaka, Adebiyi, Ezekiel
Publicado 2021

Opsoclonus-myoclonus syndrome after adenovirus infection

por Syrbe, Steffen, Merkenschlager, Andreas, Bernhard, Matthias K., Grosche, Jens, Liebert, Uwe Gerd, Hirsch, Wolfgang, Härtig, Wolfgang
Publicado 2015

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

por Schröter, Julian, Döring, Jan H., Garbade, Sven F., Hoffmann, Georg F., Kölker, Stefan, Ries, Markus, Syrbe, Steffen
Publicado 2020

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...

por Mütze, Ulrike, Bürger, Friederike, Hoffmann, Jessica, Tegetmeyer, Helmut, Heichel, Jens, Nickel, Petra, Lemke, Johannes R, Syrbe, Steffen, Beblo, Skadi
Publicado 2016

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

por Krey, Ilona, von Spiczak, Sarah, Johannesen, Kathrine M., Hikel, Christiane, Kurlemann, Gerhard, Muhle, Hiltrud, Beysen, Diane, Dietel, Tobias, Møller, Rikke S., Lemke, Johannes R., Syrbe, Steffen
Publicado 2022

Early life seizures and epileptic spasms in STXBP1-related disorders

por Thalwitzer, Kim M, Xian, Julie, deCampo, Danielle, Parthasarathy, Shridhar, Magielski, Jan, Sullivan, Katie Rose, Goss, James, Rigby, Charlene Son, Boland, Michael, Prosser, Ben, Ruggiero, Sarah M, Syrbe, Steffen, Helbig, Ingo
Publicado 2023

Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

por Seiffert, Simone, Pendziwiat, Manuela, Bierhals, Tatjana, Goel, Himanshu, Schwarz, Niklas, van der Ven, Amelie, Boßelmann, Christian Malte, Lemke, Johannes, Syrbe, Steffen, Willemsen, Marjolein Hanna, Hedrich, Ulrike Barbara Stefanie, Helbig, Ingo, Weber, Yvonne
Publicado 2022

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

por 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
Publicado 2021

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

por Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, Brennenstuhl, Heiko
Publicado 2023

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

por Schnabel, Franziska, Schuler, Elisabeth, Al-Maawali, Almundher, Chaurasia, Ankur, Syrbe, Steffen, Al-Kindi, Adila, Bhavani, Gandham SriLakshmi, Shukla, Anju, Altmüller, Janine, Nürnberg, Peter, Banka, Siddharth, Girisha, Katta M., Li, Yun, Wollnik, Bernd, Yigit, Gökhan
Publicado 2023

Epilepsy surgery in early infancy: A retrospective, multicenter study

por Makridis, Konstantin L., Klotz, Kerstin Alexandra, Ramantani, Georgia, Becker, Lena‐Luise, San Antonio‐Arce, Victoria, Syrbe, Steffen, Wagner, Kathrin, Shah, Mukesch Johannes, Thomale, Ulrich‐Wilhelm, Tietze, Anna, Elger, Christian E., Borggraefe, Ingo, Kaindl, Angela M.
Publicado 2023

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...

por 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
Publicado 2020

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

por Neuser, Sonja, Krey, Ilona, Schwan, Annemarie, Abou Jamra, Rami, Bartolomaeus, Tobias, Döring, Jan, Syrbe, Steffen, Plassmann, Margit, Rohde, Stefan, Roth, Christian, Rehder, Helga, Radtke, Maximilian, Le Duc, Diana, Schubert, Susanna, Bermúdez-Guzmán, Luis, Leal, Alejandro, Schoner, Katharina, Popp, Bernt
Publicado 2021

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

por 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
Publicado 2021

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy

por Döring, Jan H., Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Klabunde-Cherwon, Annick, Kluger, Gerhard, Muhle, Hiltrud, Pendziwiat, Manuela, Møller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Schröter, Julian, Hoffmann, Georg F., Kölker, Stefan, Syrbe, Steffen
Publicado 2022

Delineating clinical and developmental outcomes in STXBP1-related disorders

por Xian, Julie, Thalwitzer, Kim Marie, McKee, Jillian, Sullivan, Katie Rose, Brimble, Elise, Fitch, Eryn, Toib, Jonathan, Kaufman, Michael C., deCampo, Danielle, Cunningham, Kristin, Pierce, Samuel R., Goss, James, Rigby, Charlene Son, Syrbe, Steffen, Boland, Michael, Prosser, Ben, Fitter, Nasha, Ruggiero, Sarah M., Helbig, Ingo
Publicado 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders

por Xian, Julie, Thalwitzer, Kim Marie, McKee, Jillian, Sullivan, Katie Rose, Brimble, Elise, Fitch, Eryn, Toib, Jonathan, Kaufman, Michael C, deCampo, Danielle, Cunningham, Kristin, Pierce, Samuel R, Goss, James, Rigby, Charlene Son, Syrbe, Steffen, Boland, Michael, Prosser, Benjamin, Fitter, Nasha, Ruggiero, Sarah M, Helbig, Ingo
Publicado 2023

Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

por 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, Strzelczyk, Adam
Publicado 2023

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

por Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H., Donze, Stephany H., Bijlsma, Emilia K., van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K., Parker, Michael J., Lemke, Johannes R., Hoffmann, Georg F., Kölker, Stefan, Harting, Inga, Syrbe, Steffen
Publicado 2022