Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
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Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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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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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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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)
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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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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
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Published in Neurology. Genetics (01.06.2016)
Published in Neurology. Genetics (01.06.2016)
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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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