De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy
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
Published in Annals of neurology (01.08.2014)
Published in Annals of neurology (01.08.2014)
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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
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.
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells
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
Published in The Journal of experimental medicine (09.06.2008)
Published in The Journal of experimental medicine (09.06.2008)
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Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
Zara, Federico, Specchio, Nicola, Striano, Pasquale, Robbiano, Angela, Gennaro, Elena, Paravidino, Roberta, Vanni, Nicola, Beccaria, Francesca, Capovilla, Giuseppe, Bianchi, Amedeo, Caffi, Lorella, Cardilli, Viviana, Darra, Francesca, Bernardina, Bernardo Dalla, Fusco, Lucia, Gaggero, Roberto, Giordano, Lucio, Guerrini, Renzo, Incorpora, Gemma, Mastrangelo, Massimo, Spaccini, Luigina, Laverda, Anna Maria, Vecchi, Marilena, Vanadia, Francesca, Veggiotti, Pierangelo, Viri, Maurizio, Occhi, Guya, Budetta, Mauro, Taglialatela, Maurizio, Coviello, Domenico A., Vigevano, Federico, Minetti, Carlo
Published in Epilepsia (Copenhagen) (01.03.2013)
Published in Epilepsia (Copenhagen) (01.03.2013)
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PRRT2 Mutations are the major cause of benign familial infantile seizures
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.
Published in Human mutation (01.10.2012)
Published in Human mutation (01.10.2012)
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PRRT2-related disorders: further PKD and ICCA cases and review of the literature
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.
Published in Journal of neurology (01.05.2013)
Published in Journal of neurology (01.05.2013)
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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
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
Published in Epilepsia (Copenhagen) (01.02.2012)
Published in Epilepsia (Copenhagen) (01.02.2012)
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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
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.
Published in American journal of human genetics (02.10.2014)
Published in American journal of human genetics (02.10.2014)
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A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability
Miceli, Francesco, Striano, Pasquale, Soldovieri, Maria Virginia, Fontana, Antonina, Nardello, Rosaria, Robbiano, Angela, Bellini, Giulia, Elia, Maurizio, Zara, Federico, Taglialatela, Maurizio, Mangano, Salvatore
Published in Epilepsia (Copenhagen) (01.02.2015)
Published in Epilepsia (Copenhagen) (01.02.2015)
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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures
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.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
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
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus
Canafoglia, Laura, Robbiano, Angela, Pareyson, Davide, Panzica, Ferruccio, Nanetti, Lorenzo, Giovagnoli, Anna Rita, Venerando, Anna, Gellera, Cinzia, Franceschetti, Silvana, Zara, Federico
Published in Neurology (03.06.2014)
Published in Neurology (03.06.2014)
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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene
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
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Journal Article
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
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.
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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White matter involvement in a family with a novel PDGFB mutation
Biancheri, Roberta, Severino, Mariasavina, Robbiano, Angela, Iacomino, Michele, Del Sette, Massimo, Minetti, Carlo, Cervasio, Mariarosaria, Del Basso De Caro, Marialaura, Striano, Pasquale, Zara, Federico
Published in Neurology. Genetics (01.06.2016)
Published in Neurology. Genetics (01.06.2016)
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Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria
Robbiano, Angela, Mandrile, Giorgia, De Marchi, Mario, Beck, Bodo, Baasner, Anne, Murer, Luisa, Benetti, Elisa, Giachino, Daniela
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
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Brainstem Anomalies in Two Patients Affected by Congenital Central Hypoventilation Syndrome
Bachetti, Tiziana, Robbiano, Angela, Parodi, Sara, Matera, Ivana, Merello, Elisa, Capra, Valeria, Baglietto, Maria Pia, Rossi, Andrea, Ceccherini, Isabella, Ottonello, Giancarlo
Published in American journal of respiratory and critical care medicine (15.09.2006)
Published in American journal of respiratory and critical care medicine (15.09.2006)
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Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1
Robbiano, Angela, Frecer, Vladimir, Miertus, Jan, Zadro, Cristina, Ulivi, Sheila, Bevilacqua, Elena, Mandrile, Giorgia, De Marchi, Mario, Miertus, Stanislav, Amoroso, Antonio
Published in Journal of nephrology (01.11.2010)
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Published in Journal of nephrology (01.11.2010)
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