Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

Autor: Jähn, Johanna A., von Spiczak, Sarah, Muhle, Hiltrud, Obermeier, Tanja, Franke, Andre, Mefford, Heather C., Stephani, Ulrich, Helbig, Ingo

Publikováno v: In Epilepsy Research January 2014 108(1):109-116

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

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Autor: Syrbe, Steffen, Hedrich, Ulrike B S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Riesch, Erik, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Djémié, Tania, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, consortium, EuroEPINOMICS RES, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, Müller, Stephan, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R, Møller, Rikke S, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande S, Depienne, Christel, Gormley, Padhraig, Guerrini, Renzo, Maher, Bridget, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P C, Komarek, Vladimir, LeGuern, Eric, Hernandez-Hernandez, Laura, Marini, Carla, Muhle, Hiltrud, Pal, Deb, Rosenow, Felix, Selmer, Kaja, Synofzik, Matthis, Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah, Zara, Federico

Publikováno v: Nature genetics
Nature genetics 47(4), 393-399 (2015). doi:10.1038/ng.3239
Nature Genetics
Syrbe, S, Hedrich, U B S, Riesch, E, Djémié, T, Müller, S, Møller, R S, Maher, B, Hernandez-Hernandez, L, Synofzik, M, Caglayan, H S, Arslan, M, Serratosa, J M, Nothnagel, M, May, P, Krause, R, Löffler, H, Detert, K, Dorn, T, Vogt, H, Krämer, G, Schöls, L, Mullis, P E, Linnankivi, T, Lehesjoki, A-E, Sterbova, K, Craiu, D C, Hoffman-Zacharska, D, Korff, C M, Weber, Y G, Steinlin, M, Gallati, S, Bertsche, A, Bernhard, M K, Merkenschlager, A, Kiess, W, Gonzalez, M, Züchner, S, Palotie, A, Suls, A, De Jonghe, P, Helbig, I, Biskup, S, Wolff, M, Maljevic, S, Schüle, R, Sisodiya, S M, Weckhuysen, S, Lerche, H, Lemke, J R & EuroEPINOMICS RES Consortium 2015, ' De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy ', Nature Genetics, vol. 47, no. 4, pp. 393–399 . https://doi.org/10.1038/ng.3239
Nature Genetics, Vol. 47, No 4 (2015) pp. 393-399

Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features(1-6). Using next-generation sequencing, we identified four different

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2071fa6bcf061a00ed6950fd7b8a9a4
http://europepmc.org/articles/PMC4380508

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, Slavé, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E., Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., 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, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Epi4K Consortium, Epilepsy Phenome Genome Project, EuroEPINOMICS-RES Consortium

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=od_____10691::8d472801f9268703b4301b8cf8b12335
https://dspace.library.uu.nl/handle/1874/356607

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))

Autor: 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 A., 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 M., Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne G., 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 G., 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.

Publikováno v: American Journal of Human Genetics, 100(1), 179. Cell Press

(The American Journal of Human Genetics 95, 360–370; October 2, 2014) In the list of consortium members for the Epilepsy Phenome/Genome Project, member Dina Amrom's name was misspelled as Amron. The authors regret the error.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::24201f75f89c8a056998ad9955236266
https://dspace.library.uu.nl/handle/1874/356468