Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy

Autor: Schneider Marius Frederik, Vogt Miriam, Scheuermann Johanna, Müller Veronika, Fischer-Hentrich Antje H. L., Kremer Thomas, Lugert Sebastian, Metzger Friedrich, Kudernatsch Manfred, Kluger Gerhard, Hartlieb Till, Noachtar Soheyl, Vollmar Christian, Kunz Mathias, Tonn Jörg Christian, Coras Roland, Blümcke Ingmar, Pace Claudia, Heinen Florian, Klein Christoph, Potschka Heidrun, Borggraefe Ingo

Publikováno v: Translational Neuroscience, Vol 15, Iss 1, Pp e1310-75 (2024)

Heterozygous mutations within the voltage-gated sodium channel α subunit (SCN1A) are responsible for the majority of cases of Dravet syndrome (DS), a severe developmental and epileptic encephalopathy. Development of novel therapeutic approaches is m

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Cognitive profiles in pediatric unilobar vs. multilobar epilepsy

Autor: Moorhouse, Frederik Jan, Cornell, Sonia, Gerstl, Lucia, Wagner, Johanna, Tacke, Moritz, Roser, Timo, Heinen, Florian, von Stülpnagel, Celina, Vollmar, Christian, Kunz, Mathias, Ramantani, Georgia, Borggraefe, Ingo

Publikováno v: In European Journal of Paediatric Neurology November 2022 41:48-54

Monogenic variants in dystonia: an exome-wide sequencing study

Autor: Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Weise, David, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M, Ozelius, Laurie J, Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Wortmann, Saskia B, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane ^*

Publikováno v: In The Lancet Neurology November 2020 19(11):908-918

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response

Autor: Gasser, Marius, Boonsimma, Ponghatai, Netbaramee, Wiracha, Wechapinan, Thanin, Srichomthomg, Chalurmpon, Ittiwut, Chupong, Krenn, Martin, Zimprich, Fritz, Milenkovic, Ivan, Abicht, Angela, Biskup, Saskia, Roser, Timo, Shotelersuk, Vorasuk, Tacke, Moritz, Kuersten, Marianne, Wagner, Matias, Borggraefe, Ingo, Suphapeetiporn, Kanya, von Stülpnagel, Celina

Publikováno v: In Journal of Clinical Neuroscience February 2020 72:31-38