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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Lemke, JR; Lal, D; Reinthaler, EM; Steiner, I; Nothnagel, M; Alber, M; Geider, K; Laube, B; Schwake, M; Finsterwalder, K; Franke, A; Schilhabel, M; Jähn, JA; Muhle, H; Boor, R; Van Paesschen, W; Caraballo, R; Fejerman, N; Weckhuysen, S; De Jonghe, P; Larsen, J; Møller, RS; Hjalgrim, H; Addis, L; Tang, S; Hughes, E; Pal, DK; Veri, K; Vaher, U; Talvik, T; Dimova, P; Guerrero López, R; Serratosa, JM; Linnankivi, T; Lehesjoki, AE; Ruf, S; Wolff, M; Buerki, S; Wohlrab, G; Kroell, J; Datta, AN; Fiedler, B; Kurlemann, G; Kluger, G; Hahn, A; Haberlandt, DE; Kutzer, C; Sperner, J; Becker, F; Weber, YG; Feucht, M; Steinböck, H; Neophythou, B; Ronen, GM; Gruber-Sedlmayr, U; Geldner, J; Harvey, RJ; Hoffmann, P; Herms, S; Altmüller, J; Toliat, MR; Thiele, H; Nürnberg, P; Wilhelm, C; Stephani, U; Helbig, I; Lerche, H; Zimprich, F; Neubauer, BA; Biskup, S; von Spiczak, S.
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Nat Genet. 2013; 45(9):1067-1072 Doi: 10.1038/ng.2728
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Gruber-Sedlmayr Ursula
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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.
Find related publications in this database (using NLM MeSH Indexing)
Amino Acid Substitution -
Epilepsies, Partial - diagnosis
Female -
Humans -
Male -
Models, Molecular -
Mutation -
Mutation, Missense -
Pedigree -
Protein Conformation -
Receptors, N-Methyl-D-Aspartate - chemistry

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