GRIN2A mutations cause epilepsy-aphasia spectrum disorders
Gemma L Carvill, Brigid M Regan, Simone C Yendle, Brian J O'Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G Sadleir, Samantha J Turner, Meng-Han Tsai, Richard Webster, Robert Ouvrier, John A Damiano, Samuel F Berkovic, Jay Shendure, Michael S Hildebrand, Pierre Szepetowski, Ingrid E Scheffer & Heather C Mefford
Published online: 11 August 2013 | doi:10.1038/ng.2727
Heather Mefford, Ingrid Scheffer and colleagues report the identification of inherited mutations in GRIN2A that cause epilepsy-aphasia syndromes, which have a characteristic EEG pattern and developmental regression affecting language.
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke, Dennis Lal, Eva M Reinthaler, Isabelle Steiner, Michael Nothnagel, Michael Alber, Kirsten Geider, Bodo Laube, Michael Schwake, Katrin Finsterwalder, Andre Franke, Markus Schilhabel, Johanna A Jähn, Hiltrud Muhle, Rainer Boor, Wim Van Paesschen, Roberto Caraballo, Natalio Fejerman, Sarah Weckhuysen, Peter De Jonghe, Jan Larsen, Rikke S Møller, Helle Hjalgrim, Laura Addis, Shan Tang, Elaine Hughes, Deb K Pal, Kadi Veri, Ulvi Vaher, Tiina Talvik, Petia Dimova, Rosa Guerrero López, José M Serratosa, Tarja Linnankivi, Anna-Elina Lehesjoki, Susanne Ruf, Markus Wolff, Sarah Buerki, Gabriele Wohlrab, Judith Kroell, Alexandre N Datta, Barbara Fiedler, Gerhard Kurlemann, Gerhard Kluger, Andreas Hahn, D Edda Haberlandt, Christina Kutzer, Jürgen Sperner, Felicitas Becker, Yvonne G Weber, Martha Feucht, Hannelore Steinböck, Birgit Neophythou, Gabriel M Ronen, Ursula Gruber-Sedlmayr, Julia Geldner, Robert J Harvey, Per Hoffmann, Stefan Herms, Janine Altmüller, Mohammad R Toliat, Holger Thiele, Peter Nürnberg, Christian Wilhelm, Ulrich Stephani, Ingo Helbig, Holger Lerche, Fritz Zimprich, Bernd A Neubauer, Saskia Biskup & Sarah von Spiczak
Published online: 11 August 2013 | doi:10.1038/ng.2728
Sarah von Spiczak, Holger Lerche and colleagues identify mutations in GRIN2Athat cause idiopathic focal epilepsy with rolandic spikes.
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
Gaetan Lesca, Gabrielle Rudolf, Nadine Bruneau, Natalia Lozovaya, Audrey Labalme, Nadia Boutry-Kryza, Manal Salmi, Timur Tsintsadze, Laura Addis, Jacques Motte, Sukhvir Wright, Vera Tsintsadze, Anne Michel, Diane Doummar, Karine Lascelles, Lisa Strug, Patrick Waters, Julitta de Bellescize, Pascal Vrielynck, Anne de Saint Martin, Dorothee Ville, Philippe Ryvlin, Alexis Arzimanoglou, Edouard Hirsch, Angela Vincent, Deb Pal, Nail Burnashev, Damien Sanlaville & Pierre Szepetowski
Published online: 11 August 2013 | doi:10.1038/ng.2726
Pierre Szepetowski and colleagues report the identification of mutations in GRIN2Ain individuals with acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
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