Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes by Reinthaler, Eva M., Dejanovic, Borislav, Lal, Dennis, Semtner, Marcus, Merkler, Yvonne, Reinhold, Annika, Pittrich, Dorothea A., Hotzy, Christoph, Feucht, Martha, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Neophytou, Birgit, Geldner, Julia, Haberlandt, Edda, Muhle, Hiltrud, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Altmüller, Janine, Kawalia, Amit, Toliat, Mohammad R., Nürnberg, Peter, Lerche, Holger, Nothnagel, Michael, Thiele, Holger, Sander, Thomas, Meier, Jochen C., Schwarz, Günter, Neubauer, Bernd A., Zimprich, Fritz

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Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy by Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinböck, Hannelore, Gruber‐Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nürnberg, Peter, Sander, Thomas, Neubauer, Bernd A., Zimprich, Fritz

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Tick-borne encephalitis in Styrian children from 1981 to 2005: a retrospective study and a review of the literature by Fritsch, Peter, Gruber-Sedlmayr, Ursula, Pansi, Heike, Zöhrer, Bettina, Mutz, Ingomar, Spork, Dietmar, Zenz, Werner

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Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures by Jamali, Sarah, Salzmann, Annick, Perroud, Nader, Ponsole-Lenfant, Magali, Cillario, Jennifer, Roll, Patrice, Roeckel-Trevisiol, Nathalie, Crespel, Ariel, Balzar, Jorg, Schlachter, Kurt, Gruber-Sedlmayr, Ursula, Pataraia, Ekaterina, Baumgartner, Christoph, Zimprich, Alexander, Zimprich, Fritz, Malafosse, Alain, Szepetowski, Pierre

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Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy by Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Schwersenz, Inge, Walter, Maggie C, Baumann, Matthias, Baumgartner, Manuela, Deschauer, Marcus, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Hahn, Andreas, Horber, Veronka, Husain, Ralf A, Illsinger, Sabine, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Stögmann, Eva, Trollmann, Regina, Vill, Katharina, Weiß, Claudia, Wiegand, Gert, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd

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TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study by de Vries, Petrus J, Belousova, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augères, Guillaume B, Ferreira, José C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Kingswood, J Chris, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C

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Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants by Nagel, Bert, Gruber-Sedlmayr, Ursula, Uhrig, Sabine, Stöllberger, Claudia, Klopocki, Eva, Finsterer, Josef

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New mutations in the ATM gene and clinical data of 25 AT patients by Demuth, Ilja, Dutrannoy, Véronique, Marques, Wilson, Neitzel, Heidemarie, Schindler, Detlev, Dimova, Petja S., Chrzanowska, Krystyna H., Bojinova, Veneta, Gregorek, Hanna, Graul-Neumann, Luitgard M., von Moers, Arpad, Schulze, Ilka, Nicke, Marion, Bora, Elcin, Cankaya, Tufan, Oláh, Éva, Kiss, Csongor, Bessenyei, Beáta, Szakszon, Katalin, Gruber-Sedlmayr, Ursula, Kroisel, Peter Michael, Sodia, Sigrun, Goecke, Timm O., Dörk, Thilo, Digweed, Martin, Sperling, Karl, de Sá, Joaquim, Lourenco, Charles Marques, Varon, Raymonda

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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study by Benedik, Mirjana P., Carter, Tom, Dahlin, Maria, D´Amato, Lisa, de Vries, Petrus J., Feucht, Martha, Fladrowski, Carla, Macaya, Alfons, O'Callaghan, Finbar, Sander, Valentin, Shah, Seema, Youroukos, Sotiris, Zonnenberg, Bernard, Shinohara, Nobuo, Horie, Shigeo, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, Yasushi, Endo, Shoichi, Inoue, Yoshikazu, Uruno, Katsuhisa, Yapici, Zuhal, Agranovich, Oleg, Vladimirovna Maksimova, Yulia, Karas, Antonina, Jiang, Yuwu, Xu, Kaifeng, Zhang, Yushi, Luan, Guoming, Ye, Dingwei, Liao, Weiping, YAN, Bo, Deng, Yanchun, Liu, Zhisheng, Chi, Ching‐Shiang, Huang, Chao‐Ching, Riney, Kate, Kwan, Patrick, Likasitwattanakul, Surachai, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Syrigou Papavasiliou, Antigone, Giannakodimos, Stylianos, Pavlou, Evangelos, Dhooghe, Marc, Verhelst, Hélène, Leroy, Patricia, Demonceau, Nathalie, Van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, De Saint Martin, Anne, Milh, Mathieu, Ville, Dorothee, Auvin, Stéphane, Berquin, Patrick, Nguyen The Tich, Sylvie, Godet, Bertrand, Rojas, Maria Luz Ruiz Falco, Planas, Jaume Campistol, Dura, Patricia Smeyers, Pison, Javier Lopez, Laso, Eduardo Lopez, Salas, Ana Camacho, Carrera, Itxaso Marti, Salcedo, Eduardo Martinez, Candela, Ramon Cancho, Vieira, Jose Pedro, Monteiro, José Paulo da Silva Oliveira, Luis, Catarina Sofia Marceano Ribeiro, Pires Mendonca, Carla, Strautmanis, Jurgis, Gambardella, Antonio, Buono, Salvatore, Fontana, Elena, Bernardina, Bernardo Dalla, Cosma, Iuliu Stefan Bacos, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Zilinska, Zuzana, Rostasy, Kevin, Elmslie, Frances, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Sloerdahl, Andreas, Solhoff, Ragnar, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wiemer‐Kruel, Adelheid, Budde, Klemens, Knuf, Markus, Hartmann, Hans

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Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy by Kölbel, Heike, Pechmann, Astrid, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Lochmüller, Hanns, Roos, Andreas, Andres, Barbara, Baum, Tobias, Baumgartner, Manuela, Baur, Ute, Becker, Benedikt, Bernert, Günther, Birsak, Theresa, Bellut, Julia, Bertsche, Astrid, Blaschek, Astrid, Braun, Nathalie, Braun, Sarah, Burgenmeister, Nadine, Claus, Nicole, Cordts, Isabell, Deba, Timo, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dörnbrack, Katharina, Driemeyer, Joenna, Eckenweiler, Matthias, Eisenkölbl, Astrid, Fiedler, Barbara, Fischer, Michal, Freigang, Maren, Friese, Johannes, Gaiser, Philippa, Geitmann, Stephanie, Goldhahn, Klaus, Grosskreutz, Julian, Guillemot, Helene, Günther, René, Hagenacker, Tim, Hahn, Andreas, Hartmann, Hans, Hobbiebrunken, Elke, Friedrich Hoffmann, Georg, Holzwarth, Dorothea, Horber, Veronka, Jansen, Eva, Kaindl, Angela, Klamroth, Jennifer, Christoph Koch, Jan, Köhler, Cornelia, Koelker, Stefan, Kolzter, Kirsten, Korschinsky, Brigitte, Küpper, Hanna, Lehnert, Ilka, Lingor, Paul, Metelmann, Moritz, Meyer, Sascha, von Moers, Arpad, Müller, Monika, Müller, Petra, Müller‐Felber, Wolfgang, Neuwirth, Christoph, Odorfer, Thorsten, Pauschek, Josefine, Pickrodt, Katrin, Pühringer, Manuel, Quinten, Anna Lisa, Rappold, Mika, Reihle, Christof, Rödiger, Annekathrin, Saffari, Afshin, Schneider, Joanna, Schoene‐Bake, Christoph, Schreiber, Gudrun, Schwersenz, Inge, Steuernagel, Daniela, Stögmann, Eva, Stolte, Benjamin, Stoltenburg, Corinna, Stüve, Burkhard, Tassoni, Adrian, Thiele, Simone, Topakian, Raffi, Vogt, Sibylle, Vollmann, Peter, Walter, Maggie C., Warken, Birgit, Weber, Markus, Weiss, Deike, Weiss, Simone, Wiebe, Nils, Wochner, Katarzyna, Zeiner, Fiona, Zeisler, Daniela, Zeller, Daniel, Zemlin, Michael, Ziegler, Andreas

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Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) by Sauter, Matthias, Belousova, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augères, Guillaume B, de Vries, Petrus J, Ferreira, José C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna, Kingswood, J Chris

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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy by Reinthaler, Eva M, Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S, Dahl, Hans-Henrik M, Regan, Brigid M, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M, Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J, Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R, Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E, Berkovic, Samuel F, Beckmann, Jacques S, Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A

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Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project by de Vries, Petrus J, Belousova, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, Beure d'Augères, Guillaume, Ferreira, José C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, J Chris, Jansen, Anna C

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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes by Lal, Dennis, Reinthaler, Eva M, Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Günter, Riesch, Erik, Ikram, M Arfan, van Duijn, Cornelia M, Uitterlinden, Andre G, Hofman, Albert, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G, Cilio, Maria Roberta, Kunz, Wolfram S, Krause, Roland, Zimprich, Fritz, Lemke, Johannes R, Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A

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Investigation of GRIN2A in common epilepsy phenotypes by Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna-Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J, Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R

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Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation by Skrabl-Baumgartner, Andrea, Plecko, Barbara, Schmidt, Wolfgang M, König, Nadja, Hershfield, Michael, Gruber-Sedlmayr, Ursula, Lee-Kirsch, Min Ae

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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A by Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy by Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

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Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 by Strickland, Alleene V., Schabhüttl, Maria, Offenbacher, Hans, Synofzik, Matthis, Hauser, Natalie S., Brunner-Krainz, Michaela, Gruber-Sedlmayr, Ursula, Moore, Steven A., Windhager, Reinhard, Bender, Benjamin, Harms, Matthew, Klebe, Stephan, Young, Peter, Kennerson, Marina, Garcia, Avencia Sanchez Mejias, Gonzalez, Michael A., Züchner, Stephan, Schule, Rebecca, Shy, Michael E., Auer-Grumbach, Michaela

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Rare variants in [gamma]-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes by Reinthaler, Eva M, Dejanovic, Borislav, Lal, Dennis, Semtner, Marcus, Merkler, Yvonne, Reinhold, Annika, Pittrich, Dorothea A, Hotzy, Christoph, Feucht, Martha, Steinbock, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M, Neophytou, Birgit, Geldner, Julia, Haberlandt, Edda, Muhle, Hiltrud, Ikram, M Arfan, van Duijn, Cornelia M, Uitterlinden, Andre G, Hofman, Albert, Altmuller, Janine, Kawalia, Amit, Toliat, Mohammad R, Nurnberg, Peter, Lerche, Holger, Nothnagel, Michael, Thiele, Holger, Sander, Thomas, Meier, Jochen C, Schwarz, Gunter, Neubauer, Bernd A, Zimprich, Fritz

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