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 ; Jähn, Johanna A. ; Muhle, Hiltrud ; Boor, Rainer ; Paesschen, Wim van ; Caraballo, Roberto ; Fejerman, Natalio ; Weckhuysen, Sarah ; De Jonghe, Peter ; Larsen, Jan ; Møller, Rikke S. ; Hjalgrim, Helle ; Addis, Laura ; Tang, Shan ; Hughes, Elaine ; Pal, Deb K. ; Veri, Kadi ; Vaher, Ulvi ; Talvik, Tiina ; Dimova, Petia ; Guerrero López, Rosa ; Serratosa, José 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, Jürgen ; Becker, Felicitas ; Weber, Yvonne G. ; Feucht, Martha ; Steinböck, Hannelore ; Neophythou, Birgit ; Ronen, Gabriel M. ; Gruber-Sedlmayr, Ursula ; Geldner, Julia ; Harvey, Robert J. ; Hoffmann, Per ; Herms, Stefan ; Altmüller, Janine ; Toliat, Mohammad R. ; Thiele, Holger ; Nürnberg, Peter ; Wilhelm, Christian ; Stephani, Ulrich ; Helbig, Ingo ; Lerche, Holger ; Zimprich, Fritz ; Neubauer, Bernd A. ; Biskup, Saskia ; Spiczak, Sarah von (2013)
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
In: Nature genetics, 45 (9)
Artikel, Bibliographie
Kurzbeschreibung (Abstract)
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). 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 × 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.
| Typ des Eintrags: | Artikel |
|---|---|
| Erschienen: | 2013 |
| Autor(en): | 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 ; Jähn, Johanna A. ; Muhle, Hiltrud ; Boor, Rainer ; Paesschen, Wim van ; Caraballo, Roberto ; Fejerman, Natalio ; Weckhuysen, Sarah ; De Jonghe, Peter ; Larsen, Jan ; Møller, Rikke S. ; Hjalgrim, Helle ; Addis, Laura ; Tang, Shan ; Hughes, Elaine ; Pal, Deb K. ; Veri, Kadi ; Vaher, Ulvi ; Talvik, Tiina ; Dimova, Petia ; Guerrero López, Rosa ; Serratosa, José 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, Jürgen ; Becker, Felicitas ; Weber, Yvonne G. ; Feucht, Martha ; Steinböck, Hannelore ; Neophythou, Birgit ; Ronen, Gabriel M. ; Gruber-Sedlmayr, Ursula ; Geldner, Julia ; Harvey, Robert J. ; Hoffmann, Per ; Herms, Stefan ; Altmüller, Janine ; Toliat, Mohammad R. ; Thiele, Holger ; Nürnberg, Peter ; Wilhelm, Christian ; Stephani, Ulrich ; Helbig, Ingo ; Lerche, Holger ; Zimprich, Fritz ; Neubauer, Bernd A. ; Biskup, Saskia ; Spiczak, Sarah von |
| Art des Eintrags: | Bibliographie |
| Titel: | Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes |
| Sprache: | Englisch |
| Publikationsjahr: | 2013 |
| Titel der Zeitschrift, Zeitung oder Schriftenreihe: | Nature genetics |
| Jahrgang/Volume einer Zeitschrift: | 45 |
| (Heft-)Nummer: | 9 |
| Kurzbeschreibung (Abstract): | 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). 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 × 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. |
| Fachbereich(e)/-gebiet(e): | 10 Fachbereich Biologie 10 Fachbereich Biologie > Neurophysiologie und neurosensorische Systeme |
| Hinterlegungsdatum: | 22 Jan 2015 08:53 |
| Letzte Änderung: | 30 Jul 2021 06:45 |
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