Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Autor: Saskia Biskup, Jürgen Sperner, Stefan Herms, Anna-Elina Lehesjoki, Per Hoffmann, Markus Wolff, Rikke S. Møller, Hannelore Steinböck, José M. Serratosa, Peter De Jonghe, Ingo Helbig, Michael Alber, Markus Schilhabel, Laura Addis, Sarah E. Buerki, Gabriele Wohlrab, Birgit Neophythou, Johanna A. Jähn, Michael Nothnagel, Ulvi Vaher, D Edda Haberlandt, Ursula Gruber-Sedlmayr, Johannes R. Lemke, Yvonne G. Weber, Judith Kroell, Ulrich Stephani, Kadi Veri, Shan Tang, Natalio Fejerman, Gerhard Kluger, Jan Larsen, Susanne Ruf, Deb K. Pal, Sarah von Spiczak, Kirsten Geider, Bodo Laube, Gerhard Kurlemann, Martha Feucht, Dennis Lal, Bernd A. Neubauer, Robert J. Harvey, Tiina Talvik, Elaine Hughes, Tarja Linnankivi, Katrin Finsterwalder, Fritz Zimprich, Rainer Boor, Christina Kutzer, Petia Dimova, Andreas Hahn, Janine Altmüller, Christian Wilhelm, Barbara Fiedler, Felicitas Becker, Andre Franke, Helle Hjalgrim, Sarah Weckhuysen, Michael Schwake, Isabelle Steiner, Alexandre N. Datta, Gabriel M. Ronen, Rosa Guerrero López, Hiltrud Muhle, Mohammad R. Toliat, Holger Lerche, Eva M. Reinthaler, Peter Nürnberg, Roberto Caraballo, Holger Thiele, Wim Van Paesschen, Julia Geldner

Publikováno v: 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, Jähn, J A, Muhle, H, Boor, R, Van Paesschen, W, Caraballo, R, Fejerman, N, Weckhuysen, S, De Jonghe, P, Larsen, J, Møller, R S, Hjalgrim, H, Addis, L, Tang, S, Hughes, E, Pal, D K, Veri, K, Vaher, U, Talvik, T, Dimova, P, Guerrero López, R, 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, Steinböck, H, Neophythou, B, Ronen, G M, Gruber-Sedlmayr, U, Geldner, J, Harvey, R J, Hoffmann, P, Herms, S, Altmüller, J, Toliat, M R, Thiele, H, Nürnberg, P, Wilhelm, C, Stephani, U, Helbig, I, Lerche, H, Zimprich, F, Neubauer, B A, Biskup, S & von Spiczak, S 2013, ' Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes ', Nature Genetics, vol. 45, no. 9, pp. 1067-1072 . https://doi.org/10.1038/ng.2728
NATURE GENETICS
Nature genetics
Nature genetics 45(9), 1067-1072 (2013). doi:10.1038/ng.2728

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), L

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https://doi.org/10.5167/uzh-91805