Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families

Authors: Afawi, Zaid, Amrom, Dina, Andermann, Eva, Bautista, Jocelyn F., Bellows, Susannah T., Bluvstein, Judith, Cascino, Gregory D., Chung, Seo-Kyung, Cossette, Patrick, Curtis, Sarah W., Delanty, Norman, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Freyer, Catharine, Gravel, Micheline, Harris, Rebekah V., Heinzen, Erin L., Henry, Olivia J., Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Loeb, Rebecca, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Motika, Paul V., O'Brien, Terence J., Ottman, Ruth, Paolicchi, Juliann M., Petrovski, Slave, Pickrell, William O., Rees, Mark I., Sadleir, Lynette G., Shih, Jerry J., Singh, Rani K., Smith, Michael C., Smith, Philip E.M., Thomas, Rhys H., Weisenberg, Judith, Widdess-Walsh, Peter, Winawer, Melodie R., Oliver, Karen L., Scheffer, Ingrid E., Ellis, Colin A., Grinton, Bronwyn E., Berkovic, Samuel F., Bahlo, Melanie

Source: In eBioMedicine November 2024 109

Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Authors: Koko, Mahmoud, Motelow, Joshua E., 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, Baulac, Stéphanie, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Bridgers, Joshua, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Cavalleri, Gianpiero L., Chung, Seo‐Kyung, Cieuta‐Walti, Cécile, Cloutier, Véronique, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fiol, Miguel, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Freyer, Catharine, Friedman, Daniel, Gambardella, Antonio, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Johnson, Michael R., Jorgensen, Andrea, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Klein, Karl M., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Langley, Sarah R., LeGuern, Eric, Lehesjoki, Anna‐Elina, Lerche, Holger, Leu, Costin, Lortie, Anne, Lowenstein, Daniel H., Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Moreau, Claudia, Motika, Paul V., Muhle, Hiltrud, Møller, Rikke S., Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Nürnberg, Peter, Ottman, Ruth, O'Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., Park, Kristen, Peter, Sarah, Petrou, Steven, Petrovski, Slavé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Schubert, Julian, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Sills, Graeme J., Singh, Rani K., Siren, Auli, Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Striano, Pasquale, Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zara, Federico, Zimprich, Fritz

Source: Epilepsia. 63(3):723-735

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100142099578.0x000001&indx=1&recIds=ETOCvdc_100142099578.0x000001

Diverse genetic causes of polymicrogyria with epilepsy

Authors: Allen, Andrew S, Aggarwal, Vimla, Berkovic, Samuel F, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E, Epstein, Michael P, Freyer, Catharine, Goldstein, David B, Guerrini, Renzo, Glauser, Tracy, Heinzen, Erin L, Johnson, Michael R, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mefford, Heather C, O'Brien, Terence J, Ottman, Ruth, Poduri, Annapurna, Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K, Scheffer, Ingrid E, Sherr, Elliott H, Abou‐Khalil, Bassel, Amrom, Dina, Andermann, Eva, Andermann, Frederick, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alexis, Cascino, Greg, Consalvo, Damian, Crumrine, Pat, Devinsky, Orrin, Fountain, Nathan, Friedman, Dan, Geller, Eric, Glynn, Simon, Haas, Kevin, Haut, Sheryl, Joshi, Sucheta, Kirsch, Heidi, Knowlton, Robert, Kossoff, Eric, Lowenstein, Daniel H., Motika, Paul V., Paolicchi, Juliann M., Parent, Jack M., Scheffer, Ingrid, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K., Sperling, Michael, Smith, Michael C., Sullivan, Joseph, Vining, Eileen P. G., Von Allmen, Gretchen K., Widdess‐Walsh, Peter, Winawer, Melodie R., Bautista, Jocelyn, Fiol, Miguel, Hayward, Jean, Helmers, Sandra, Park, Kristen, Sirven, Joseph, Lin Thio, Liu, Venkat, Anu, Weisenberg, Judith, Kuperman, Rachel, McGuire, Shannon, Novotny, Edward, Sadleir, Lynette

Source: Epilepsia. 62(4):973-983

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140395513.0x000001&indx=1&recIds=ETOCvdc_100140395513.0x000001

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Authors: 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

Source: In The Lancet Neurology February 2017 16(2):135-143

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

Authors: Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, 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, 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, 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, Sadleir, Lynette, 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., 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., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

Source: In The American Journal of Human Genetics 2 October 2014 95(4):360-370

Can statins prevent seizures after strokes?

Authors: Motika, Paul V.

Source: Neurology. 85(8):e66-e68

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100037117455.0x000001&indx=1&recIds=ETOCvdc_100037117455.0x000001

Integrated system security method

Integrated System Security Method

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

Authors: Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, 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, 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, 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, Sadleir, Lynette, 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., 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., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

Source: In The American Journal of Human Genetics 5 January 2017 100(1):179-179

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