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    Ultra-rare genetic variation in common epilepsies: a case-control sequencing study von Allen, Andrew S, Bellows, Susannah T, Berkovic, Samuel F, Bridgers, Joshua, Burgess, Rosemary, Cavalleri, Gianpiero, Chung, Seo-Kyung, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Epstein, Michael P, Freyer, Catharine, Goldstein, David B, Heinzen, Erin L, Hildebrand, Michael S, Johnson, Michael R, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mayeux, Richard, Mebane, Caroline, Mefford, Heather C, O'Brien, Terence J, Ottman, Ruth, Petrou, Steven, Petrovski, Slavgé, Pickrell, William O, Poduri, Annapurna, Radtke, Rodney A, Rees, Mark I, Regan, Brigid M, Ren, Zhong, Scheffer, Ingrid E, Sills, Graeme J, Thomas, Rhys H, Wang, Quanli, Abou-Khalil, Bassel, Alldredge, Brian K, Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory D, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B, 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, Knowlton, Robert C, Kossoff, Eric H, Kuperman, Rachel, Motika, Paul V, Novotny, Edward J, Paolicchi, Juliann M, Parent, Jack M, Park, Kristen, Sadleir, Lynette G, Shellhaas, Renée A., Sherr, Elliott H, Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K, Sirven, Joseph, Smith, Michael C, Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G, Von Allmen, Gretchen K, Weisenberg, Judith L, Widdess-Walsh, Peter, Winawer, Melodie R

    Veröffentlicht in Lancet neurology

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    Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study von Stanley, Kate E., Bobbili, Dheeraj R., Dhindsa, Ryan S., May, Patrick, Alldredge, Brian K., Allen, Andrew S., Altmüller, Janine, Amrom, Dina, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Bluvstein, Judith, Boro, Alex, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Chung, Seo‐Kyung, Cieuta‐Walti, Cécile, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Jorgensen, Andrea, Joshi, Sucheta, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Kunz, Wolfram S., Langley, Sarah R., LeGuern, Eric, Lerche, Holger, Leu, Costin, Lortie, Anne, Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Motika, Paul V., Muhle, Hiltrud, Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Ottman, Ruth, O’Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., Peter, Sarah, Petrou, Steven, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Singh, Rani K., Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Widdess‐Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zimprich, Fritz

    Veröffentlicht in Epilepsia (Copenhagen)

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    Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy von Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., 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, Poduri, Annapurna, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R.

    Veröffentlicht in Annals of neurology

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    De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies von 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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