Investigation of GRIN2A in common epilepsy phenotypes

Dennis Lal, Sandra Steinbrücker, Julian Schubert, Thomas Sander, Felicitas Becker, Yvonne Weber, Holger Lerche, Holger Thiele, Roland Krause, Anna Elina Lehesjoki, Peter Nürnberg, Aarno Palotie, Bernd A. Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingo Helbig, Albert J. Becker, Susanne Schoch, Jörg Hansen, Thomas DornChristin Hohl, Nicole Lüscher, Sarah von Spiczak*, Johannes R. Lemke, Fritz Zimprich, Martha Feucht, Arvid Suls, Sarah Weckhuysen, Lieve Claes, Liesbet Deprez, Katrien Smets, Tine Van Dyck, Tine Deconinck, Peter De Jonghe, Rikke S. Møller, Laura L. Klitten, Helle Hjalgrim, Kiel Campus, Philipp Ostertag, Hol ger Trucks, Christian E. Elger, Ailing A. Kleefuß-Lie, Wolfram S. Kunz, Rainer Surges, Verena Gaus, Dieter Janz, Bettina Schmitz, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Hajo M. Hamer, Felix Rosenow, Claudia Kapser, Christoph J. Schankin, Bobby P C Koeleman, Carolien de Kovel, Dick Lindhout, Eva M. Reinthaler, Hannelore Steinboeck, Birgit Neo-phytou, Julia Geldner, Ursula Gruber-Sedlmayr, Edda Haberlandt, Gabriel M. Ronen, Janine Altmueller, Peter Nuernberg, Bernd Neubauer, Auli Sirén

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)


Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A mutations by investigating patients with the two most common epilepsy syndromes: (i) idiopathic generalized epilepsy (IGE) and (ii) temporal lobe epilepsy (TLE). Whole exome sequencing data of 238 patients with IGE as well as Sanger sequencing of 84 patients with TLE were evaluated for GRIN2A sequence alterations. Two additional independent cohorts comprising 1469 IGE and 330 TLE patients were screened for structural deletions (>40. kb) involving GRIN2A. Apart from a presumably benign, non-segregating variant in a patient with juvenile absence epilepsy, neither mutations nor deletions were detected in either cohort. These findings suggest that mutations in GRIN2A preferentially are involved in genetic variance of pediatric IFE and do not contribute significantly to either adult focal epilepsies as TLE or generalized epilepsies.

Original languageEnglish
Pages (from-to)95-99
Number of pages5
JournalEpilepsy Research
Publication statusPublished - 1 Sept 2015


  • Copy number variation
  • GRIN2A
  • Idiopathic generalized epilepsy
  • Mutation
  • Temporal lobe epilepsy


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