Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy by Vanni, Nicola, Fruscione, Floriana, Ferlazzo, Edoardo, Striano, Pasquale, Robbiano, Angela, Traverso, Monica, Sander, Thomas, Falace, Antonio, Gazzerro, Elisabetta, Bramanti, Placido, Bielawski, Jacek, Fassio, Anna, Minetti, Carlo, Genton, Pierre, Zara, Federico

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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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Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells by Gerosa, Franca, Baldani-Guerra, Barbara, Lyakh, Lyudmila A, Batoni, Giovanna, Esin, Semih, Winkler-Pickett, Robin T, Consolaro, Maria Rita, De Marchi, Mario, Giachino, Daniela, Robbiano, Angela, Astegiano, Marco, Sambataro, Angela, Kastelein, Robert A, Carra, Giuseppe, Trinchieri, Giorgio

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PRRT2 Mutations are the major cause of benign familial infantile seizures by Schubert, Julian, Paravidino, Roberta, Becker, Felicitas, Berger, Andrea, Bebek, Nerses, Bianchi, Amedeo, Brockmann, Knut, Capovilla, Giuseppe, Dalla Bernardina, Bernardo, Fukuyama, Yukio, Hoffmann, Georg F., Jurkat-Rott, Karin, Anttonen, Anna-Kaisa, Kurlemann, Gerhard, Lehesjoki, Anna-Elina, Lehmann-Horn, Frank, Mastrangelo, Massimo, Mause, Ulrike, Müller, Stephan, Neubauer, Bernd, Püst, Burkhard, Rating, Dietz, Robbiano, Angela, Ruf, Susanne, Schroeder, Christopher, Seidel, Andreas, Specchio, Nicola, Stephani, Ulrich, Striano, Pasquale, Teichler, Jens, Turkdogan, Dilsad, Vigevano, Federico, Viri, Maurizio, Bauer, Peter, Zara, Federico, Lerche, Holger, Weber, Yvonne G.

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PRRT2-related disorders: further PKD and ICCA cases and review of the literature by Becker, Felicitas, Schubert, Julian, Striano, Pasquale, Anttonen, Anna-Kaisa, Liukkonen, Elina, Gaily, Eija, Gerloff, Christian, Müller, Stephan, Heußinger, Nicole, Kellinghaus, Christoph, Robbiano, Angela, Polvi, Anne, Zittel, Simone, von Oertzen, Tim J., Rostasy, Kevin, Schöls, Ludger, Warner, Tom, Münchau, Alexander, Lehesjoki, Anna-Elina, Zara, Federico, Lerche, Holger, Weber, Yvonne G.

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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies by Leu, Costin, de Kovel, Carolien G.F., Zara, Federico, Striano, Pasquale, Pezzella, Marianna, Robbiano, Angela, Bianchi, Amedeo, Bisulli, Francesca, Coppola, Antonietta, Giallonardo, Anna Teresa, Beccaria, Francesca, Trenité, Dorothée Kasteleijn-Nolst, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kleefuß-Lie, Ailing A., Hallman, Kerstin, Kunz, Wolfram S., Elger, Christian E., Muhle, Hiltrud, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Serratosa, Jose M., Rosenow, Felix, Feucht, Martha, Unterberger, Iris, Covanis, Athanasios, Suls, Arvid, Weckhuysen, Sarah, Kaneva, Radka, Caglayan, Hande, Turkdogan, Dilsad, Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Trucks, Holger, Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., Sander, Thomas

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies by Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Palotie, Aarno, Pendziwiat, Manuela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Singh, Rani, Smith, Michael C., Sullivan, Joe, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Winawer, Melodie R., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Marson, Anthony G., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome by 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, Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Muhle, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Arsene, Oana Tarta, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P., Kirov, Andrey V., Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja

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A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability by Miceli, Francesco, Striano, Pasquale, Soldovieri, Maria Virginia, Fontana, Antonina, Nardello, Rosaria, Robbiano, Angela, Bellini, Giulia, Elia, Maurizio, Zara, Federico, Taglialatela, Maurizio, Mangano, Salvatore

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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures by Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene by Williams, Emma L, Acquaviva, Cecile, Amoroso, Antonio, Chevalier, Francoise, Coulter-Mackie, Marion, Monico, Carla G, Giachino, Daniela, Owen, Tricia, Robbiano, Angela, Salido, Eduardo, Waterham, Hans, Rumsby, Gill

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Familial cortical tremor and epilepsy: A well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification by Striano, Pasquale, Robbiano, Angela, Zara, Federico, Striano, Salvatore

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies by Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Lerche, Holger, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Palotie, Aarno, Pendziwiat, Manuela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Abou-Khalil, Bassel, Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sullivan, Joe, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrovski, Slavé, Ruzzo, Elizabeth K.

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White matter involvement in a family with a novel PDGFB mutation by Biancheri, Roberta, Severino, Mariasavina, Robbiano, Angela, Iacomino, Michele, Del Sette, Massimo, Minetti, Carlo, Cervasio, Mariarosaria, Del Basso De Caro, Marialaura, Striano, Pasquale, Zara, Federico

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High salinity fluid inclusions formed from recycled seawater in deeply subducted alpine serpentinite by Scambelluri, Marco, Piccardo, Giovanni B., Philippot, Pascal, Robbiano, Andrea, Negretti, Laura

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Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria by Robbiano, Angela, Mandrile, Giorgia, De Marchi, Mario, Beck, Bodo, Baasner, Anne, Murer, Luisa, Benetti, Elisa, Giachino, Daniela

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Brainstem Anomalies in Two Patients Affected by Congenital Central Hypoventilation Syndrome by Bachetti, Tiziana, Robbiano, Angela, Parodi, Sara, Matera, Ivana, Merello, Elisa, Capra, Valeria, Baglietto, Maria Pia, Rossi, Andrea, Ceccherini, Isabella, Ottonello, Giancarlo

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Colchicine Protects Against Cardiomyopathy in Humanized Mouse Model for Sickle Cell Disease by Federti, Enrica, Iatcenko, Iana, Ghigo, Alessandra, Mattè, Alessandro, Riccardi, Veronica, Andolfo, Immacolata, Siciliano, Angela, Mazzi, Filippo, Stella, Manuela, Robbiano, Luigi, Pinto, Valeria, Iolascon, Achille, Forni, Gian Luca, De Franceschi, Lucia

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