Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach

Autor: Ulrich Stephani, Hiltrud Muhle, Andre Franke, Katrin Finsterwalder, Ingo Helbig, Sarah von Spiczak, Markus Schilhabel

Publikováno v: Epilepsia. 52:e143-e147

Photoparoxysmal response (PPR) is a highly heritable electroencephalographic trait characterized by an increased sensitivity to photic stimulation. It may serve as an endophenotype for idiopathic generalized epilepsy. Family linkage studies identifie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cd3b38ff9bb474f155f9cf2d18ccbe8a
https://doi.org/10.1111/j.1528-1167.2011.03197.x

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0281aff55ae5d7df342ab95dbc568ddb
https://doi.org/10.5167/uzh-91805

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

Autor: Constanze, Reutlinger, Ingo, Helbig, Barbara, Gawelczyk, Jose Ignacio Martin, Subero, Holger, Tönnies, Hiltrud, Muhle, Katrin, Finsterwalder, Sascha, Vermeer, Rolph, Pfundt, Jürgen, Sperner, Irina, Stefanova, Gabriele, Gillessen-Kaesbach, Sarah, von Spiczak, Andreas, van Baalen, Rainer, Boor, Reiner, Siebert, Ulrich, Stephani, Almuth, Caliebe

Publikováno v: Epilepsia. 51(9)

Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes ranging from benign rolandic epilepsy to more severe seizure disorders including atypical benign partial epilepsy/pseudo-Lennox syndrome,electrical status ep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c8313e63c78325a2276b9f88b3e9e176
https://pubmed.ncbi.nlm.nih.gov/20384727