Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies
Bassel Abou‐Khalil, Zaid Afawi, Andrew S Allen, Jocelyn F Bautista, Susannah T Bellows, Samuel F Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory Cascino, Patrick Cossette, Sabrina Cristofaro, Douglas E Crompton, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Colin A Ellis, Michael P Epstein, Nathan B Fountain, Catharine Freyer, Eric B Geller, Tracy Glauser, Simon Glynn, Hadassa Goldberg‐Stern, David B Goldstein, Micheline Gravel, Kevin Haas, Sheryl Haut, Erin L Heinzen, Heidi E Kirsch, Sara Kivity, Robert Knowlton, Amos D Korczyn, Eric Kossoff, Ruben Kuzniecky, Rebecca Loeb, Daniel H Lowenstein, Anthony G Marson, Mark McCormack, Kevin McKenna, Heather C Mefford, Paul Motika, Saul A Mullen, Terence J. O'Brien, Ruth Ottman, Juliann Paolicchi, Jack Parent, Sarah Paterson, Steven Petrou, Slavé Petrovski, William Owen Pickrell, Annapurna Poduri, Mark I Rees, Lynette G Sadleir, Ingrid E Scheffer, Jerry Shih, Rani Singh, Joseph Sirven, Phil EM Smith, Liu Lin Thio, Rhys H Thomas, Anu Venkat, Eileen Vining, Gretchen Von Allmen, Judith Weisenberg, Peter Widdess‐Walsh, Melodie R Winawer
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
B Abou-Khalil, P Auce, A Avbersek, M Bahlo, DJ Balding, T Bast, L Baum, AJ Becker, F Becker, B Berghuis, SF Berkovic, KE Boysen, JP Bradfield, LC Brody, RJ Buono, E Campbell, GD Cascino, CB Catarino, GL Cavalleri, SS Cherny, K Chinthapalli, AJ Coffey, A Compston, A Coppola, P Cossette, JJ Craig, GJ de Haan, P De Jonghe, CGF de Kovel, N Delanty, C Depondt, O Devinsky, DJ Dlugos, CP Doherty, CE Elger, JG Eriksson, TN Ferraro, M Feucht, B Francis, A Franke, JA French, S Freytag, V Gaus, EB Geller, C Gieger, T Glauser, Simon Glynn, DB Goldstein, H Gui, Y Guo, KF Haas, H Hakonarson, K Hallmann, S Haut, EL Heinzen, I Helbig, C Hengsbach, H Hjalgrim, M Iacomino, A Ingason, J Jamnadas-Khoda, . Johnson, R Kälviäinen, AM Kantanen, D Kasperavičiūte, D Kasteleijn-Nolst Trenite, HE Kirsch, RC Knowlton, BPC Koeleman, R Krause, M Krenn, WS Kunz, R Kuzniecky, P Kwan, D Lal, YL Lau, AE Lehesjoki, H Lerche, C Leu, W Lieb, D Lindhout, WD Lo, I Lopes-Cendes, DH Lowenstein, A Malovini, AG Marson, T Mayer, M McCormack, JL Mills, N Mirza, M Moerzinger, RS Møller, AM Molloy, H Muhle, M Newton, PW Ng, MM Nöthen, P Nürnberg, TJ O’Brien, KL Oliver
Phenotypic analysis of 303 multiplex families with common epilepsies.
B Abou-Khalil, Z Afawi, AS Allen, JF Bautista, ST Bellows, SF Berkovic, J Bluvstein, R Burgess, G Cascino, EJ Cops, P Cossette, S Cristofaro, DE Crompton, N Delanty, O Devinsky, D Dlugos, MP Epstein, NB Fountain, C Freyer, SI Garry, EB Geller, T Glauser, Simon Glynn, H Goldberg-Stern, DB Goldstein, M Gravel, K Haas, S Haut, EL Heinzen, HE Kirsch, S Kivity, R Knowlton, AD Korczyn, E Kossoff, R Kuzniecky, R Loeb, DH Lowenstein, AG Marson, M McCormack, K McKenna, HC Mefford, P Motika, . Mullen, TJ O'Brien, R Ottman, J Paolicchi, Jack Parent, S Paterson, S Petrovski, WO Pickrell, A Poduri, MI Rees, LG Sadleir, IE Scheffer, J Shih, R Singh, J Sirven, PEM Smith, LL Thio, RH Thomas, A Venkat, E Vining, G Von Allmen, J Weisenberg, P Widdess-Walsh, . Winawer
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
Andrew S Allen, Susannah T Bellows, Samuel F Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero Cavalleri, Seo-Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos, Michael P Epstein, Catharine Freyer, David B Goldstein, Erin L Heinzen, Michael S Hildebrand, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Anthony G Marson, Richard Mayeux, Caroline Mebane, Heather C Mefford, Terence J O'Brien, Ruth Ottman, Steven Petrou, Slavgé Petrovski, William O Pickrell, Annapurna Poduri, Rodney A Radtke, Mark I Rees, Brigid M Regan, Zhong Ren, Ingrid E Scheffer, Graeme J Sills, Rhys H Thomas, Quanli Wang, Bassel Abou-Khalil, Brian K Alldredge, Dina Amrom, Frederick Andermann, Jocelyn F Bautista, Judith Bluvstein, Alex Boro, Gregory D Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Paul V Motika, Edward J Novotny, Juliann M Paolicchi, Jack Parent, Kristen Park, Lynette G Sadleir, Renee Shellhaas, Elliott H Sherr, Jerry J Shih, Shlomo Shinnar, Rani K Singh, Joseph Sirven, Michael C Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K Alldredge, Frederick Andermann, Dina Amrom, Jocelyn F Bautista, Samuel F Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H Lowenstein, Shannon M McGuire, Paul V Motika, Edward J Novotny, Ruth Ottman, Juliann M Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E Scheffer, Renee Shellhaas, Elliott Sherr, Jerry J Shih, Rani Singh, Joseph Sirven, Michael C Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer, Andrew S Allen, Patrick Cossette, Norman Delanty, Evan E Eichler, David B Goldstein, Yujun Han, Erin L Heinzen, Michael R Johnson, Anthony G Marson, Heather C Mefford, Sahar Esmaeeli Nieh, Terence J O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K Ruzzo
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K Alldredge, Frederick Andermann, Dina Amron, Jocelyn F Bautista, Samuel F Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H Lowenstein, Shannon M McGuire, Paul V Motika, Edward J Novotny, Ruth Ottman, Juliann M Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E Scheffer, Renee Shellhaas, Elliott Sherr, Jerry J Shih, Rani Singh, Joseph Sirven, Michael C Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer, Andrew S Allen, Patrick Cossette, Norman Delanty, Evan E Eichler, David B Goldstein, Yujun Han, Erin L Heinzen, Michael R Johnson, Anthony G Marson, Heather C Mefford, Sahar Esmaeeli Nieh, Terence J O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K Ruzzo
De novo mutations in epileptic encephalopathies
AS Allen, SF Berkovic, P Cossette, N Delanty, D Dlugos, EE Eichler, MP Epstein, T Glauser, DB Goldstein, Y Han, EL Heinzen, Y Hitomi, KB Howell, . Johnson, R Kuzniecky, DH Lowenstein, YF Lu, MRZ Madou, AG Marson, HC Mefford, S Esmaeeli Nieh, TJ O'Brien, R Ottman, S Petrovski, A Poduri, EK Ruzzo, IE Scheffer, EH Sherr, CJ Yuskaitis, B Abou-Khalil, BK Alldredge, JF Bautista, A Boro, GD Cascino, D Consalvo, P Crumrine, O Devinsky, M Fiol, NB Fountain, J French, D Friedman, EB Geller, Simon Glynn, . Haut, J Hayward, SL Helmers, Sucheta Joshi, A Kanner, HE Kirsch, RC Knowlton, EH Kossoff, R Kuperman, SM McGuire, PV Motika, EJ Novotny, JM Paolicchi, Jack Parent, K Park, Renee Shellhaas, JJ Shih, R Singh, J Sirven, MC Smith, J Sullivan, L Lin Thio, A Venkat, EPG Vining, GK Von Allmen, JL Weisenberg, P Widdess-Walsh, . Winawer
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