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

Autor: 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

Publikováno v: In eBioMedicine November 2024 109

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Autor: Allen, Andrew S, Berkovic, Samuel F, Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P, Glauser, Tracy, Goldstein, David B, Heinzen, Erin L, Jiang, Yu, Johnson, Michael R, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mefford, Heather C, O'Brien, Terence J, Ottman, Ruth, Petrou, Steven, Petrovski, Slave, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E, Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stephanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jaehn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R, Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Moller, Rikke S, Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, 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, Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F, Bluvstein, Judith, Cascino, Gregory D, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel E, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Haas, Kevin, Haut, Sheryl R, Hayward, Jean, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Kossoff, Eric H, Kuperman, Rachel, McGuire, Shannon M, Motika, Paul V, Novotny, Edward J, Paolicchi, Juliann M, Parent, Jack, Park, Kristen, Shellhaas, Renee A, Sirven, Joseph, Smith, Michael C, Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen PG, Von Allmen, Gretchen K, Weisenberg, Judith L, Widdess-Walsh, Peter, Winawer, Melodie R, Consortium, Epi4K, Consortium, EuroEPINOMICS-RES, Project, Epilepsy Phenome Genome

Publikováno v: European journal of human genetics
Hjalgrim, H, Møller, R S, Epi4K Consortium, EuroEPINOMICS RES Consortium & Epilepsy Phenome Genome Project 2017, ' Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data ', European Journal of Human Genetics, vol. 25, no. 7, pp. 894-899 . https://doi.org/10.1038/ejhg.2017.61
EUROPEAN JOURNAL OF HUMAN GENETICS
European Journal of Human Genetics, 25(7), 894. Nature Publishing Group

The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acf9128ff7d720f7f793d665b77f628e
http://hdl.handle.net/11567/1022119

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.