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

Autor: Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Sadleir, L. G., Sander, J. W., Sander, T., Scheffer, I. E., Schubert, J., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Sills, G. J., Singh, R. K., Siren, A., Sirven, J., Sisodiya, S. M., Smith, M. C., Sonsma, A. C. M., Striano, P., Sullivan, J., Thio, L. L., Thomas, R. H., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Wang, Q., Weber, Y. G., Weckhuysen, S., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Wolking, S., Zara, F., Zimprich, F.

Publikováno v: Epilepsia
Epilepsia : the journal of the International League Against Epilepsy 63(3), 723-735 (2022). doi:10.1111/epi.17166
Epilepsia, vol 63, iss 3

ObjectiveWe aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7ae19c74c6656815103b75a8ec9b7f
http://hdl.handle.net/11567/1080622

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Phenotypic analysis of 303 multiplex families with common epilepsies

Autor: Eileen P.G. Vining, Patrick Cossette, Mike Smith, P. E. M. Smith, Zaid Afawi, G. D. Cascino, Jocelyn F. Bautista, EJ Cops, Robert C. Knowlton, Tracy A. Glauser, Anu Venkat, Peter Widdess-Walsh, Sara Kivity, Mark I. Rees, Kevin McKenna, Amos D. Korczyn, Douglas E. Crompton, Saul A. Mullen, Heidi E. Kirsch, Nathan B. Fountain, Sheryl R. Haut, Slavé Petrovski, Andrew S. Allen, Sarah I. Garry, Anthony G Marson, Bassel Abou-Khalil, Rhys H. Thomas, Jerry J. Shih, Michael P. Epstein, Eric H. Kossoff, Winawer, Liu Lin Thio, Daniel H. Lowenstein, Dennis J. Dlugos, Rosemary Burgess, Eric B. Geller, Micheline Gravel, Jack M. Parent, Simon Glynn, Norman Delanty, Rebecca Loeb, Terence J. O'Brien, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Judith L.Z. Weisenberg, Mark McCormack, Erin L. Heinzen, Judith Bluvstein, David Goldstein, Hadassa Goldberg-Stern, Sarah Paterson, Rinki Singh, Sabrina Cristofaro, Ruth Ottman, Susannah T. Bellows, R. Kuzniecky, Paul V. Motika, Heather C Mefford, Catharine Freyer, Annapurna Poduri, Juliann M. Paolicchi, Orrin Devinsky, Kevin Haas, Samuel F. Berkovic, Von, Allmen, G, Lynette G. Sadleir

Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867f4cc029d003ee18e1be0cfd54d18b
https://cronfa.swan.ac.uk/Record/cronfa34711/Download/34711__17853__8813e43263704468ac9f1a6b73e2cbb7.pdf

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