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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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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