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
AS Allen, ST Bellows, SF Berkovic, J Bridgers, R Burgess, G Cavalleri, SK Chung, P Cossette, N Delanty, D Dlugos, MP Epstein, C Freyer, DB Goldstein, EL Heinzen, . Hildebrand, . Johnson, R Kuzniecky, DH Lowenstein, AG Marson, R Mayeux, C Mebane, HC Mefford, TJ O'Brien, R Ottman, S Petrou, S Petrovski, WO Pickrell, RA Radtke, MI Rees, BM Regan, Z Ren, IE Scheffer, GJ Sills, RH Thomas, Q Wang, B Abou-Khalil, BK Alldredge, D Amrom, F Andermann, JF Bautista, J Bluvstein, A Boro, GD Cascino, D Consalvo, P Crumrine, O Devinsky, M Fiol, NB Fountain, J French, D Friedman, EB Geller, T Glauser, Simon Glynn, K Haas, . Haut, J Hayward, SL Helmers, Sucheta Joshi, A Kanner, HE Kirsch, RC Knowlton, EH Kossoff, R Kuperman, PV Motika, EJ Novotny, JM Paolicchi, Jack Parent, K Park, A Poduri, LG Sadleir, Renee Shellhaas, EH Sherr, JJ Shih, S Shinnar, RK Singh, J Sirven, MC Smith, J Sullivan, LL Thio, A Venkat, EPG Vining, GK Von Allmen, JL Weisenberg, P Widdess-Walsh, . Winawer
Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, P De Jonghe, C Depienne, P Dimova, T Djémié, P Gormley, R Guerrini, I Helbig, H Hjalgrim, D Hoffman-Zacharska, J Jähn, KM Klein, B Koeleman, V Komarek, R Krause, G Kuhlenbäumer, E Leguern, AE Lehesjoki, . Lemke, H Lerche, T Linnankivi, C Marini, P May, RS Møller, H Muhle, D Pal, A Palotie, M Pendziwiat, A Robbiano, F Roelens, F Rosenow, K Selmer, JM Serratosa, S Sisodiya, U Stephani, K Sterbova, P Striano, A Suls, T Talvik, S von Spiczak, Y Weber, S Weckhuysen, F Zara, B Abou-Khalil, BK Alldredge, F Andermann, D Amrom, JF Bautista, SF Berkovic, J Bluvstein, A Boro, G Cascino, D Consalvo, P Crumrine, O Devinsky, D Dlugos, MP Epstein, M Fiol, NB Fountain, J French, D Friedman, EB Geller, T Glauser, Simon Glynn, K Haas, . Haut, J Hayward, SL Helmers, Sucheta Joshi, A Kanner, HE Kirsch, RC Knowlton, EH Kossoff, R Kuperman, R Kuzniecky, DH Lowenstein, SM McGuire, PV Motika, EJ Novotny, R Ottman, JM Paolicchi, Jack Parent, K Park, A Poduri, L Sadleir, IE Scheffer, Renee Shellhaas, E Sherr, JJ Shih, R Singh, J Sirven, MC Smith, J Sullivan, LL Thio
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy
Z Fallil, H Pardoe, R Bachman, B Cunningham, I Parulkar, C Shain, A Poduri, R Knowlton, R Kuzniecky, B Abou-Khalil, B Alldredge, E Andermann, J Bautista, S Berkovic, A Boro, G Cascino, D Consalvo, P Crumrine, O Devinsky, D Dlugos, M Epstein, M Fiol, N Fountain, J French, D Friedman, E Geller, T Glauser, Simon Glynn, S Haut, J Hayward, S Helmers, A Kanner, H Kirsch, E Kossoff, R Kuperman, D Lowenstein, S McGuire, P Motika, E Novotny, R Ottman, J Paolicchi, Jack Parent, K Park, N Risch, L Sadleir, I Scheffer, Renee Shellhaas, E Sherr, J Shih, S Shinnar, R Singh, J Sirven, M Smith, J Sullivan, LL Thio, A Venkatasubramanian, E Vining, G Von Allmen, J Weisenberg, P Widdess-Walsh, . Winawer, E Acton, S Hagopian, S Sanchez
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, P De Jonghe, C Depienne, P Dimova, T Djémié, P Gormley, R Guerrini, I Helbig, H Hjalgrim, D Hoffman-Zacharska, J Jähn, KM Klein, B Koeleman, V Komarek, R Krause, G Kuhlenbäumer, E Leguern, AE Lehesjoki, . Lemke, H Lerche, T Linnankivi, C Marini, P May, RS Møller, H Muhle, D Pal, A Palotie, M Pendziwiat, A Robbiano, F Roelens, F Rosenow, K Selmer, JM Serratosa, S Sisodiya, U Stephani, K Sterbova, P Striano, A Suls, T Talvik, S Von Spiczak, Y Weber, S Weckhuysen, F Zara, B Abou-Khalil, BK Alldredge, F Andermann, D Amron, JF Bautista, SF Berkovic, J Bluvstein, A Boro, G Cascino, D Consalvo, P Crumrine, O Devinsky, D Dlugos, MP Epstein, M Fiol, NB Fountain, J French, D Friedman, EB Geller, T Glauser, Simon Glynn, K Haas, . Haut, J Hayward, SL Helmers, Sucheta Joshi, A Kanner, HE Kirsch, RC Knowlton, EH Kossoff, R Kuperman, R Kuzniecky, DH Lowenstein, SM McGuire, PV Motika, EJ Novotny, R Ottman, JM Paolicchi, Jack Parent, K Park, A Poduri, L Sadleir, IE Scheffer, Renee Shellhaas, E Sherr, JJ Shih, R Singh, J Sirven, MC Smith, J Sullivan, LL Thio
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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