Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, et al. (2013)
Nature Genetics 45(9): 1067-1072.

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Abstract / Bemerkung
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS)(1,2). The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.5%; P = 4.83 x 10(-18), Fisher's exact test). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12/245 (4.9%) in individuals with BECTS to 9/51 (17.6%) in individuals with CSWS (P = 0.009, Cochran-Armitage test for trend). In addition, exon-disrupting microdeletions were found in 3 of 286 individuals (1.0%; P = 0.004, Fisher's exact test). These results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.
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Nature Genetics
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45
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9
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1067-1072
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Lemke JR, Lal D, Reinthaler EM, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics. 2013;45(9):1067-1072.
Lemke, J. R., Lal, D., Reinthaler, E. M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., et al. (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9), 1067-1072. doi:10.1038/ng.2728
Lemke, J. R., Lal, D., Reinthaler, E. M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., Laube, B., Schwake, M., Finsterwalder, K., et al. (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics 45, 1067-1072.
Lemke, J.R., et al., 2013. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9), p 1067-1072.
J.R. Lemke, et al., “Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes”, Nature Genetics, vol. 45, 2013, pp. 1067-1072.
Lemke, J.R., Lal, D., Reinthaler, E.M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., Laube, B., Schwake, M., Finsterwalder, K., Franke, A., Schilhabel, M., Jaehn, J.A., Muhle, H., Boor, R., Van Paesschen, W., Caraballo, R., Fejerman, N., Weckhuysen, S., De Jonghe, P., Larsen, J., Moller, R.S., Hjalgrim, H., Addis, L., Tang, S., Hughes, E., Pal, D.K., Veri, K., Vaher, U., Talvik, T., Dimova, P., Lopez, R.G., Serratosa, J.M., Linnankivi, T., Lehesjoki, A.-E., Ruf, S., Wolff, M., Buerki, S., Wohlrab, G., Kroell, J., Datta, A.N., Fiedler, B., Kurlemann, G., Kluger, G., Hahn, A., Haberlandt, D.E., Kutzer, C., Sperner, J., Becker, F., Weber, Y.G., Feucht, M., Steinboeck, H., Neophythou, B., Ronen, G.M., Gruber-Sedlmayr, U., Geldner, J., Harvey, R.J., Hoffmann, P., Herms, S., Altmueller, J., Toliat, M.R., Thiele, H., Nuernberg, P., Wilhelm, C., Stephani, U., Helbig, I., Lerche, H., Zimprich, F., Neubauer, B.A., Biskup, S., von Spiczak, S.: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics. 45, 1067-1072 (2013).
Lemke, Johannes R., Lal, Dennis, Reinthaler, Eva M., Steiner, Isabelle, Nothnagel, Michael, Alber, Michael, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Finsterwalder, Katrin, Franke, Andre, Schilhabel, Markus, Jaehn, Johanna A., Muhle, Hiltrud, Boor, Rainer, Van Paesschen, Wim, Caraballo, Roberto, Fejerman, Natalio, Weckhuysen, Sarah, De Jonghe, Peter, Larsen, Jan, Moller, Rikke S., Hjalgrim, Helle, Addis, Laura, Tang, Shan, Hughes, Elaine, Pal, Deb K., Veri, Kadi, Vaher, Ulvi, Talvik, Tiina, Dimova, Petia, Lopez, Rosa Guerrero, Serratosa, Jose M., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Ruf, Susanne, Wolff, Markus, Buerki, Sarah, Wohlrab, Gabriele, Kroell, Judith, Datta, Alexandre N., Fiedler, Barbara, Kurlemann, Gerhard, Kluger, Gerhard, Hahn, Andreas, Haberlandt, D. Edda, Kutzer, Christina, Sperner, Juergen, Becker, Felicitas, Weber, Yvonne G., Feucht, Martha, Steinboeck, Hannelore, Neophythou, Birgit, Ronen, Gabriel M., Gruber-Sedlmayr, Ursula, Geldner, Julia, Harvey, Robert J., Hoffmann, Per, Herms, Stefan, Altmueller, Janine, Toliat, Mohammad R., Thiele, Holger, Nuernberg, Peter, Wilhelm, Christian, Stephani, Ulrich, Helbig, Ingo, Lerche, Holger, Zimprich, Fritz, Neubauer, Bernd A., Biskup, Saskia, and von Spiczak, Sarah. “Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes”. Nature Genetics 45.9 (2013): 1067-1072.

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