Article
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Nature genetics - 1 Sept 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, Jähn Johanna A, Muhle Hiltrud, Boor Rainer, Van Paesschen Wim, 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, von Spiczak Sarah
Abstract excerpt
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...
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