Role of rufinamide in the management of Lennox-Gastaut syndrome (childhood epileptic encephalopathy)

بواسطة Kluger, Gerhard, Bauer, Bettina
منشور في 2007

Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years

بواسطة von Stülpnagel, Celina, van Baalen, Andreas, Borggraefe, Ingo, Eschermann, Kirsten, Hartlieb, Till, Kiwull, Lorenz, Pringsheim, Milka, Wolff, Markus, Kudernatsch, Manfred, Wiegand, Gert, Striano, Pasquale, Kluger, Gerhard
الحاوية / القاعدة Front Neurol (2021)

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

بواسطة Kortüm, Fanny, Das, Soma, Flindt, Max, Morris-Rosendahl, Deborah J., Stefanova, Irina, Goldstein, Amy, Horn, Denise, Klopocki, Eva, Kluger, Gerhard, Martin, Peter, Rauch, Anita, Roumer, Agathe, Saitta, Sulagna, Walsh, Laurence E., Wieczorek, Dagmar, Uyanik, Gökhan, Kutsche, Kerstin, Dobyns, William B.
الحاوية / القاعدة J Med Genet (2011)

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

بواسطة Helbig, Ingo, Barcia, Giulia, Pendziwiat, Manuela, Ganesan, Shiva, Mueller, Stefanie H., Helbig, Katherine L., Vaidiswaran, Priya, Xian, Julie, Galer, Peter D., Afawi, Zaid, Specchio, Nicola, Kluger, Gerhard, Kuhlenbäumer, Gregor, Appenzeller, Silke, Wittig, Michael, Kramer, Uri, van Baalen, Andreas, Nabbout, Rima
الحاوية / القاعدة Ann Clin Transl Neurol (2020)

47 patients with FLNA associated periventricular nodular heterotopia

بواسطة Lange, Max, Kasper, Burkhard, Bohring, Axel, Rutsch, Frank, Kluger, Gerhard, Hoffjan, Sabine, Spranger, Stephanie, Behnecke, Anne, Ferbert, Andreas, Hahn, Andreas, Oehl-Jaschkowitz, Barbara, Graul-Neumann, Luitgard, Diepold, Katharina, Schreyer, Isolde, Bernhard, Matthias K., Mueller, Franziska, Siebers-Renelt, Ulrike, Beleza-Meireles, Ana, Uyanik, Goekhan, Janssens, Sandra, Boltshauser, Eugen, Winkler, Juergen, Schuierer, Gerhard, Hehr, Ute
الحاوية / القاعدة Orphanet J Rare Dis (2015)

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

بواسطة Wielaender, Franziska, Sarviaho, Riika, James, Fiona, Hytönen, Marjo K., Cortez, Miguel A., Kluger, Gerhard, Koskinen, Lotta L. E., Arumilli, Meharji, Kornberg, Marion, Bathen-Noethen, Andrea, Tipold, Andrea, Rentmeister, Kai, Bhatti, Sofie F. M., Hülsmeyer, Velia, Boettcher, Irene C., Tästensen, Carina, Flegel, Thomas, Dietschi, Elisabeth, Leeb, Tosso, Matiasek, Kaspar, Fischer, Andrea, Lohi, Hannes
الحاوية / القاعدة Proc Natl Acad Sci U S A (2017)

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

بواسطة Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul CM, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry AGM, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen
منشور في 2012

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

بواسطة 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
الحاوية / القاعدة Orphanet J Rare Dis (2021)

The phenotypic spectrum of SCN8A encephalopathy

بواسطة Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G.F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.
الحاوية / القاعدة Neurology (2015)

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

بواسطة Pringsheim, Milka, Mitter, Diana, Schröder, Simone, Warthemann, Rita, Plümacher, Kim, Kluger, Gerhard, Baethmann, Martina, Bast, Thomas, Braun, Sarah, Büttel, Hans‐Martin, Conover, Elizabeth, Courage, Carolina, Datta, Alexandre N., Eger, Angelika, Grebe, Theresa A., Hasse‐Wittmer, Annette, Heruth, Marion, Höft, Karen, Kaindl, Angela M., Karch, Stephanie, Kautzky, Torsten, Korenke, Georg C., Kruse, Bernd, Lutz, Richard E., Omran, Heymut, Patzer, Steffi, Philippi, Heike, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Schimmel, Mareike, Westman, Rachel, Zech, Frank‐Martin, Zirn, Birgit, Ulmke, Pauline A., Sokpor, Godwin, Tuoc, Tran, Leha, Andreas, Staudt, Martin, Brockmann, Knut
الحاوية / القاعدة Ann Clin Transl Neurol (2019)

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

بواسطة 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
الحاوية / القاعدة Biomedicines (2020)

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

بواسطة Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo
منشور في 2013

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

بواسطة 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
الحاوية / القاعدة Neurology (2017)

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

بواسطة Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M.
الحاوية / القاعدة Neurology (2018)

Clinical spectrum of STX1B-related epileptic disorders

بواسطة Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian
الحاوية / القاعدة Neurology (2019)

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

بواسطة Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
الحاوية / القاعدة Hum Genet (2017)

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

بواسطة Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
الحاوية / القاعدة J Clin Endocrinol Metab (2020)