Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, et al. (2013)
Nature Genetics 45(9): 1067-1072.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Autor*in
Lemke, Johannes R.; Lal, Dennis; Reinthaler, Eva M.; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, MichaelUniBi ; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus
Alle
Abstract / Bemerkung
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)(1,2). 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 x 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.
Erscheinungsjahr
2013
Zeitschriftentitel
Nature Genetics
Band
45
Ausgabe
9
Seite(n)
1067-1072
ISSN
1061-4036
eISSN
1546-1718
Page URI
https://pub.uni-bielefeld.de/record/2625613

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Lemke JR, Lal D, Reinthaler EM, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics. 2013;45(9):1067-1072.
Lemke, J. R., Lal, D., Reinthaler, E. M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., et al. (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9), 1067-1072. doi:10.1038/ng.2728
Lemke, J. R., Lal, D., Reinthaler, E. M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., Laube, B., Schwake, M., Finsterwalder, K., et al. (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics 45, 1067-1072.
Lemke, J.R., et al., 2013. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9), p 1067-1072.
J.R. Lemke, et al., “Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes”, Nature Genetics, vol. 45, 2013, pp. 1067-1072.
Lemke, J.R., Lal, D., Reinthaler, E.M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., Laube, B., Schwake, M., Finsterwalder, K., Franke, A., Schilhabel, M., Jaehn, J.A., Muhle, H., Boor, R., Van Paesschen, W., Caraballo, R., Fejerman, N., Weckhuysen, S., De Jonghe, P., Larsen, J., Moller, R.S., Hjalgrim, H., Addis, L., Tang, S., Hughes, E., Pal, D.K., Veri, K., Vaher, U., Talvik, T., Dimova, P., Lopez, R.G., Serratosa, J.M., Linnankivi, T., Lehesjoki, A.-E., Ruf, S., Wolff, M., Buerki, S., Wohlrab, G., Kroell, J., Datta, A.N., Fiedler, B., Kurlemann, G., Kluger, G., Hahn, A., Haberlandt, D.E., Kutzer, C., Sperner, J., Becker, F., Weber, Y.G., Feucht, M., Steinboeck, H., Neophythou, B., Ronen, G.M., Gruber-Sedlmayr, U., Geldner, J., Harvey, R.J., Hoffmann, P., Herms, S., Altmueller, J., Toliat, M.R., Thiele, H., Nuernberg, P., Wilhelm, C., Stephani, U., Helbig, I., Lerche, H., Zimprich, F., Neubauer, B.A., Biskup, S., von Spiczak, S.: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics. 45, 1067-1072 (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, Jaehn, Johanna A., Muhle, Hiltrud, Boor, Rainer, Van Paesschen, Wim, Caraballo, Roberto, Fejerman, Natalio, Weckhuysen, Sarah, De Jonghe, Peter, Larsen, Jan, Moller, Rikke S., Hjalgrim, Helle, Addis, Laura, Tang, Shan, Hughes, Elaine, Pal, Deb K., Veri, Kadi, Vaher, Ulvi, Talvik, Tiina, Dimova, Petia, Lopez, Rosa Guerrero, Serratosa, Jose 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, Juergen, Becker, Felicitas, Weber, Yvonne G., Feucht, Martha, Steinboeck, Hannelore, Neophythou, Birgit, Ronen, Gabriel M., Gruber-Sedlmayr, Ursula, Geldner, Julia, Harvey, Robert J., Hoffmann, Per, Herms, Stefan, Altmueller, Janine, Toliat, Mohammad R., Thiele, Holger, Nuernberg, Peter, Wilhelm, Christian, Stephani, Ulrich, Helbig, Ingo, Lerche, Holger, Zimprich, Fritz, Neubauer, Bernd A., Biskup, Saskia, and von Spiczak, Sarah. “Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes”. Nature Genetics 45.9 (2013): 1067-1072.

143 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z., Clin Genet 95(2), 2019
PMID: 29023665
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N, Lin ZJ, Wang J, Wei F, Meng H, Liu XR, Chen Q, Su T, Shi YW, Yi YH, Liao WP., Genet Med 21(1), 2019
PMID: 29895856
Epilepsy genetics: Current knowledge, applications, and future directions.
Myers KA, Johnstone DL, Dyment DA., Clin Genet 95(1), 2019
PMID: 29992546
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR, GRIN2A study group., Brain 142(1), 2019
PMID: 30544257
Structural elements of a pH-sensitive inhibitor binding site in NMDA receptors.
Regan MC, Zhu Z, Yuan H, Myers SJ, Menaldino DS, Tahirovic YA, Liotta DC, Traynelis SF, Furukawa H., Nat Commun 10(1), 2019
PMID: 30659174
Spontaneous Switching among Conformational Ensembles in Intrinsically Disordered Proteins.
Choi UB, Sanabria H, Smirnova T, Bowen ME, Weninger KR., Biomolecules 9(3), 2019
PMID: 30909517
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H., Nat Commun 10(1), 2019
PMID: 31300657
Pharmacogenomics in epilepsy.
Balestrini S, Sisodiya SM., Neurosci Lett 667(), 2018
PMID: 28082152
Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.
Xu XX, Liu XR, Fan CY, Lai JX, Shi YW, Yang W, Su T, Xu JY, Luo JH, Liao WP., Neurosci Bull 34(2), 2018
PMID: 28936771
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Xu XX, Luo JH., Neurosci Bull 34(3), 2018
PMID: 29124671
Region-specific deletions of the glutamate transporter GLT1 differentially affect seizure activity and neurodegeneration in mice.
Sugimoto J, Tanaka M, Sugiyama K, Ito Y, Aizawa H, Soma M, Shimizu T, Mitani A, Tanaka K., Glia 66(4), 2018
PMID: 29214672
Language Dysfunction in Pediatric Epilepsy.
Baumer FM, Cardon AL, Porter BE., J Pediatr 194(), 2018
PMID: 29241678
The Bioactive Protein-Ligand Conformation of GluN2C-Selective Positive Allosteric Modulators Bound to the NMDA Receptor.
Kaiser TM, Kell SA, Kusumoto H, Shaulsky G, Bhattacharya S, Epplin MP, Strong KL, Miller EJ, Cox BD, Menaldino DS, Liotta DC, Traynelis SF, Burger PB., Mol Pharmacol 93(2), 2018
PMID: 29242355
De Novo Mutations and Rare Variants Occurring in NMDA Receptors.
XiangWei W, Jiang Y, Yuan H., Curr Opin Physiol 2(), 2018
PMID: 29756080
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Oyrer J, Maljevic S, Scheffer IE, Berkovic SF, Petrou S, Reid CA., Pharmacol Rev 70(1), 2018
PMID: 29263209
NMDA Receptor GluN2 Subtypes Control Epileptiform Events in the Hippocampus.
Punnakkal P, Dominic D., Neuromolecular Med 20(1), 2018
PMID: 29335819
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Altmüller J, Lal D, Nürnberg P, Sander T, Thiele H, Krause R, May P, Balling R, Lerche H, Neubauer BA, EUROEPINOMICS COGIE Consortium., Eur J Hum Genet 26(2), 2018
PMID: 29358611
Duplications at 19q13.33 in patients with neurodevelopmental disorders.
Pérez-Palma E, Saarentaus E, Ravoet M, De Ferrari GV, Nürnberg P, Isidor B, Neubauer BA, Lal D., Neurol Genet 4(1), 2018
PMID: 29473046
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT., Brain 141(3), 2018
PMID: 29365063
Dendritic structural plasticity and neuropsychiatric disease.
Forrest MP, Parnell E, Penzes P., Nat Rev Neurosci 19(4), 2018
PMID: 29545546
Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy.
Dazzo E, Rehberg K, Michelucci R, Passarelli D, Boniver C, Vianello Dri V, Striano P, Striano S, Pasterkamp RJ, Nobile C., Ann Neurol 83(3), 2018
PMID: 29394500
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.
Fernández-Marmiesse A, Kusumoto H, Rekarte S, Roca I, Zhang J, Myers SJ, Traynelis SF, Couce ML, Gutierrez-Solana L, Yuan H., Mov Disord 33(6), 2018
PMID: 29644724
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates S, Tang S, Rosch R, Lear R, Hughes EF, Williams RE, Larsen LHG, Hao Q, Dahl HA, Møller RS, Pal DK., NPJ Genom Med 3(), 2018
PMID: 29760947
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Addis L, Sproviero W, Thomas SV, Caraballo RH, Newhouse SJ, Gomez K, Hughes E, Kinali M, McCormick D, Hannan S, Cossu S, Taylor J, Akman CI, Wolf SM, Mandelbaum DE, Gupta R, van der Spek RA, Pruna D, Pal DK., J Med Genet 55(9), 2018
PMID: 29789371
Incidence of Childhood Epilepsy in Estonia.
Veri K, Talvik I, Vaher U, Napa A, Ilves P, Uibo O, Õiglane-Shlik E, Laugesaar R, Rein R, Kolk A, Noormets K, Reimand T, Õunap K, Talvik T., J Child Neurol 33(9), 2018
PMID: 29862897
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Kessi M, Peng J, Yang L, Xiong J, Duan H, Pang N, Yin F., BMC Genet 19(1), 2018
PMID: 29976148
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.
Tsai MH, Chan CK, Chang YC, Lin CH, Liou CW, Chang WN, Ng CC, Lim KS, Hwang DY., Front Neurol 9(), 2018
PMID: 30034362
A structurally derived model of subunit-dependent NMDA receptor function.
Gibb AJ, Ogden KK, McDaniel MJ, Vance KM, Kell SA, Butch C, Burger P, Liotta DC, Traynelis SF., J Physiol 596(17), 2018
PMID: 29917241
Rare gene deletions in genetic generalized and Rolandic epilepsies.
Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA, EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P., PLoS One 13(8), 2018
PMID: 30148849
Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology.
Tacke M, Rupp N, Gerstl L, Heinen F, Vill K, Bonfert M, Neubauer BA, Bast T, Borggraefe I, Further Members of the German HEAD Study Group., Acta Neurol Scand 138(6), 2018
PMID: 30259965
Sleep Related Epilepsy and Pharmacotherapy: An Insight.
Kumar J, Solaiman A, Mahakkanukrauh P, Mohamed R, Das S., Front Pharmacol 9(), 2018
PMID: 30319421
Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.
Che XQ, Sun ZF, Mao X, Xia K, Yan XX, Jiang H, Shen L, Li N, Tang BS., Int J Neurosci 127(1), 2017
PMID: 26954261
Precision medicine in genetic epilepsies: break of dawn?
Reif PS, Tsai MH, Helbig I, Rosenow F, Klein KM., Expert Rev Neurother 17(4), 2017
PMID: 27781560
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.
Ciaccio C, Tucci A, Scuvera G, Estienne M, Esposito S, Milani D., Eur J Med Genet 60(3), 2017
PMID: 28007608
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G., Eur J Hum Genet 25(3), 2017
PMID: 28051072
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I., Eur J Paediatr Neurol 21(3), 2017
PMID: 28109652
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.
Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS., Epilepsia 58(3), 2017
PMID: 28098945
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
Chen W, Tankovic A, Burger PB, Kusumoto H, Traynelis SF, Yuan H., Mol Pharmacol 91(4), 2017
PMID: 28126851
Reduced thalamic volume in patients with Electrical Status Epilepticus in Sleep.
Sánchez Fernández I, Peters JM, Akhondi-Asl A, Klehm J, Warfield SK, Loddenkemper T., Epilepsy Res 130(), 2017
PMID: 28160673
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
Gao K, Tankovic A, Zhang Y, Kusumoto H, Zhang J, Chen W, XiangWei W, Shaulsky GH, Hu C, Traynelis SF, Yuan H, Jiang Y., PLoS One 12(2), 2017
PMID: 28182669
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Chen W, Shieh C, Swanger SA, Tankovic A, Au M, McGuire M, Tagliati M, Graham JM, Madan-Khetarpal S, Traynelis SF, Yuan H, Pierson TM., J Hum Genet 62(6), 2017
PMID: 28228639
A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density.
Liu S, Zhou L, Yuan H, Vieira M, Sanz-Clemente A, Badger JD, Lu W, Traynelis SF, Roche KW., J Neurosci 37(15), 2017
PMID: 28283559
Functional assessment of the NMDA receptor variant GluN2A R586K.
Marwick KFM, Parker P, Skehel P, Hardingham G, Wyllie DJA., Wellcome Open Res 2(), 2017
PMID: 28459106
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR., J Med Genet 54(7), 2017
PMID: 28377535
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R., Eur J Med Genet 60(6), 2017
PMID: 28389307
DEPDC5 as a potential therapeutic target for epilepsy.
Myers KA, Scheffer IE., Expert Opin Ther Targets 21(6), 2017
PMID: 28406046
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Chen XS, Reader RH, Hoischen A, Veltman JA, Simpson NH, Francks C, Newbury DF, Fisher SE., Sci Rep 7(), 2017
PMID: 28440294
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F, Yan LM, Su T, He N, Lin ZJ, Wang J, Shi YW, Yi YH, Liao WP., Neurosci Bull 33(4), 2017
PMID: 28488083
Divergent roles of a peripheral transmembrane segment in AMPA and NMDA receptors.
Amin JB, Salussolia CL, Chan K, Regan MC, Dai J, Zhou HX, Furukawa H, Bowen ME, Wollmuth LP., J Gen Physiol 149(6), 2017
PMID: 28507080
GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors.
Mullier B, Wolff C, Sands ZA, Ghisdal P, Muglia P, Kaminski RM, André VM., Neuropharmacology 123(), 2017
PMID: 28533163
Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit.
Sibarov DA, Bruneau N, Antonov SM, Szepetowski P, Burnashev N, Giniatullin R., Front Cell Neurosci 11(), 2017
PMID: 28611597
Genome annotation for clinical genomic diagnostics: strengths and weaknesses.
Steward CA, Parker APJ, Minassian BA, Sisodiya SM, Frankish A, Harrow J., Genome Med 9(1), 2017
PMID: 28558813
The role of genetic testing in epilepsy diagnosis and management.
Weber YG, Biskup S, Helbig KL, Von Spiczak S, Lerche H., Expert Rev Mol Diagn 17(8), 2017
PMID: 28548558
Catastrophic Epilepsies of Childhood.
Howard MA, Baraban SC., Annu Rev Neurosci 40(), 2017
PMID: 28772100
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D., J Med Genet 54(9), 2017
PMID: 28756411
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Mei D, Parrini E, Marini C, Guerrini R., Mol Diagn Ther 21(4), 2017
PMID: 28197949
Sleep-related movement disorders and disturbances of motor control.
Bargiotas P, Bassetti CL., Curr Opin Neurol 30(4), 2017
PMID: 28582324
Speech and Language: Translating the Genome.
Deriziotis P, Fisher SE., Trends Genet 33(9), 2017
PMID: 28781152
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G., Brain 140(9), 2017
PMID: 29050392
Models for discovery of targeted therapy in genetic epileptic encephalopathies.
Maljevic S, Reid CA, Petrou S., J Neurochem 143(1), 2017
PMID: 28742937
Epigenetic control of epilepsy target genes contributes to a cellular memory of epileptogenesis in cultured rat hippocampal neurons.
Kiese K, Jablonski J, Hackenbracht J, Wrosch JK, Groemer TW, Kornhuber J, Blümcke I, Kobow K., Acta Neuropathol Commun 5(1), 2017
PMID: 29089052
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, GEM HUGO, Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S., Am J Hum Genet 101(5), 2017
PMID: 29100089
[Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].
Tacke M, Neubauer BA, Gerstl L, Roser T, Rémi J, Borggraefe I., Nervenarzt 88(12), 2017
PMID: 28932874
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sørensen KP, Helbig KL, Lessel D, Abou Jamra R., Am J Hum Genet 101(6), 2017
PMID: 29220673
The genetic landscape of the epileptic encephalopathies of infancy and childhood.
McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE., Lancet Neurol 15(3), 2016
PMID: 26597089
Lessons learned from gene identification studies in Mendelian epilepsy disorders.
Hardies K, Weckhuysen S, De Jonghe P, Suls A., Eur J Hum Genet 24(7), 2016
PMID: 26603999
Real-time effects of centrotemporal spikes on cognition in rolandic epilepsy: An EEG-fMRI study.
Xiao F, An D, Lei D, Li L, Chen S, Wu X, Yang T, Ren J, Gong Q, Zhou D., Neurology 86(6), 2016
PMID: 26747882
MPX-004 and MPX-007: New Pharmacological Tools to Study the Physiology of NMDA Receptors Containing the GluN2A Subunit.
Volkmann RA, Fanger CM, Anderson DR, Sirivolu VR, Paschetto K, Gordon E, Virginio C, Gleyzes M, Buisson B, Steidl E, Mierau SB, Fagiolini M, Menniti FS., PLoS One 11(2), 2016
PMID: 26829109
Positive Allosteric Modulators of GluN2A-Containing NMDARs with Distinct Modes of Action and Impacts on Circuit Function.
Hackos DH, Lupardus PJ, Grand T, Chen Y, Wang TM, Reynen P, Gustafson A, Wallweber HJ, Volgraf M, Sellers BD, Schwarz JB, Paoletti P, Sheng M, Zhou Q, Hanson JE., Neuron 89(5), 2016
PMID: 26875626
Management of genetic epilepsies: From empirical treatment to precision medicine.
Striano P, Vari MS, Mazzocchetti C, Verrotti A, Zara F., Pharmacol Res 107(), 2016
PMID: 27080588
Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.
Allen NM, Conroy J, Deonna T, McCreary D, McGettigan P, Madigan C, Carter I, Ennis S, Lynch SA, Shahwan A, King MD., Epilepsy Behav Case Rep 6(), 2016
PMID: 27504264
Sleep-Related Epilepsy.
Carreño M, Fernández S., Curr Treat Options Neurol 18(5), 2016
PMID: 27059342
2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions.
Caplan R, Mefford H, Berl M, Chang B, Lin J, Mazarati A, Fureman B, Dingledine R, American Epilepsy Society (AES)/National Institute of Neurological Disorders and Stroke (NINDS) Epilepsy Benchmark Stewards., Epilepsy Curr 16(3), 2016
PMID: 27330450
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S., Neurology 86(23), 2016
PMID: 27164704
A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.
Panjwani N, Wilson MD, Addis L, Crosbie J, Wirrell E, Auvin S, Caraballo RH, Kinali M, McCormick D, Oren C, Taylor J, Trounce J, Clarke T, Akman CI, Kugler SL, Mandelbaum DE, McGoldrick P, Wolf SM, Arnold P, Schachar R, Pal DK, Strug LJ., Ann Clin Transl Neurol 3(7), 2016
PMID: 27386500
N-methyl-d-aspartate (NMDA) receptor antibodies encephalitis mimicking an autistic regression.
Hacohen Y, Wright S, Gadian J, Vincent A, Lim M, Wassmer E, Lin JP., Dev Med Child Neurol 58(10), 2016
PMID: 27255282
Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations.
Serraz B, Grand T, Paoletti P., Neuropharmacology 109(), 2016
PMID: 27288002
Ripples on rolandic spikes: A marker of epilepsy severity.
van Klink NE, van 't Klooster MA, Leijten FS, Jacobs J, Braun KP, Zijlmans M., Epilepsia 57(7), 2016
PMID: 27270830
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA., Mol Syndromol 7(4), 2016
PMID: 27781031
Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.
Smigiel R, Kostrzewa G, Kosinska J, Pollak A, Stawinski P, Szmida E, Bloch M, Szymanska K, Karpinski P, Sasiadek MM, Ploski R., Am J Med Genet A 170(12), 2016
PMID: 27605359
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ., Am J Hum Genet 99(4), 2016
PMID: 27616483
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
Swanger SA, Chen W, Wells G, Burger PB, Tankovic A, Bhattacharya S, Strong KL, Hu C, Kusumoto H, Zhang J, Adams DR, Millichap JJ, Petrovski S, Traynelis SF, Yuan H., Am J Hum Genet 99(6), 2016
PMID: 27839871
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, Iascone M, Pezzoli L, Bellazzi R, Perotti G, De Giorgis V, Lunghi S, Coppola G, Orcesi S, Merli P, Savasta S, Veggiotti P, Zuffardi O., Eur J Hum Genet 23(3), 2015
PMID: 24848745
Neuronal calcium signaling pathways are associated with the development of epilepsy.
Meng F, You Y, Liu Z, Liu J, Ding H, Xu R., Mol Med Rep 11(1), 2015
PMID: 25339366
NMDA receptor subunit mutations in neurodevelopmental disorders.
Burnashev N, Szepetowski P., Curr Opin Pharmacol 20(), 2015
PMID: 25498981
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G., Eur J Med Genet 58(2), 2015
PMID: 25497044
Impaired sleep-related consolidation of declarative memories in idiopathic focal epilepsies of childhood.
Galer S, Urbain C, De Tiège X, Emeriau M, Leproult R, Deliens G, Nonclerq A, Peigneux P, Van Bogaert P., Epilepsy Behav 43(), 2015
PMID: 25546732
Clinical and molecular delineation of a 16p13.2p13.13 microduplication.
Tassano E, Alpigiani MG, Calcagno A, Salvati P, De Miglio L, Fiorio P, Cuoco C, Gimelli G., Eur J Med Genet 58(3), 2015
PMID: 25596524
GRIN2A: an aptly named gene for speech dysfunction.
Turner SJ, Mayes AK, Verhoeven A, Mandelstam SA, Morgan AT, Scheffer IE., Neurology 84(6), 2015
PMID: 25596506
Insights into the genetic foundations of human communication.
Graham SA, Deriziotis P, Fisher SE., Neuropsychol Rev 25(1), 2015
PMID: 25597031
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR, EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F., Ann Neurol 77(6), 2015
PMID: 25726841
Genetic screening and diagnosis in epilepsy?
Sisodiya SM., Curr Opin Neurol 28(2), 2015
PMID: 25692410
The genetics of neuropsychiatric diseases: looking in and beyond the exome.
Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB., Annu Rev Neurosci 38(), 2015
PMID: 25840007
Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations.
Baker K, Astle DE, Scerif G, Barnes J, Smith J, Moffat G, Gillard J, Baldeweg T, Raymond FL., Ann Clin Transl Neurol 2(5), 2015
PMID: 26000327
Autism spectrum disorder and epilepsy: Disorders with a shared biology.
Lee BH, Smith T, Paciorkowski AR., Epilepsy Behav 47(), 2015
PMID: 25900226
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H, Low CM, Moody OA, Jenkins A, Traynelis SF., Mol Pharmacol 88(1), 2015
PMID: 25904555
Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies.
Qu J, Yang ZQ, Zhang Y, Mao CX, Wang ZB, Mao XY, Zhou BT, Yin JY, He H, Long HY, Gong JE, Xiao B, Zhou HH, Liu ZQ., J Neurol Sci 354(1-2), 2015
PMID: 26003227
Epilepsy genetics: the ongoing revolution.
Lesca G, Depienne C., Rev Neurol (Paris) 171(6-7), 2015
PMID: 26003806
New genes for focal epilepsies with speech and language disorders.
Turner SJ, Morgan AT, Perez ER, Scheffer IE., Curr Neurol Neurosci Rep 15(6), 2015
PMID: 25921602
Unbalanced Peptidergic Inhibition in Superficial Neocortex Underlies Spike and Wave Seizure Activity.
Hall S, Hunt M, Simon A, Cunnington LG, Carracedo LM, Schofield IS, Forsyth R, Traub RD, Whittington MA., J Neurosci 35(25), 2015
PMID: 26109655
Investigation of GRIN2A in common epilepsy phenotypes.
Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N, Epicure consortium, EuroEPINOMICS-CoGIE consortium, von Spiczak S, Lemke JR., Epilepsy Res 115(), 2015
PMID: 26220384
The genetics of the epilepsies.
El Achkar CM, Olson HE, Poduri A, Pearl PL., Curr Neurol Neurosci Rep 15(7), 2015
PMID: 26008807
Clinical Genetic Testing in Epilepsy.
Mefford HC., Epilepsy Curr 15(4), 2015
PMID: 26316867
Should epileptiform discharges be treated?
Sánchez Fernández I, Loddenkemper T, Galanopoulou AS, Moshé SL., Epilepsia 56(10), 2015
PMID: 26293670
Advancing epilepsy genetics in the genomic era.
Myers CT, Mefford HC., Genome Med 7(), 2015
PMID: 26302787
Treatment of electrical status epilepticus in sleep: A pooled analysis of 575 cases.
van den Munckhof B, van Dee V, Sagi L, Caraballo RH, Veggiotti P, Liukkonen E, Loddenkemper T, Sánchez Fernández I, Buzatu M, Bulteau C, Braun KP, Jansen FE., Epilepsia 56(11), 2015
PMID: 26337159
Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.
Dhindsa RS, Goldstein DB., Curr Neurol Neurosci Rep 15(10), 2015
PMID: 26319171
Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice.
Gonsales MC, Montenegro MA, Soler CV, Coan AC, Guerreiro MM, Lopes-Cendes I., Arq Neuropsiquiatr 73(11), 2015
PMID: 26517219
The contribution of next generation sequencing to epilepsy genetics.
Møller RS, Dahl HA, Helbig I., Expert Rev Mol Diagn 15(12), 2015
PMID: 26565596
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.
Dimassi S, Labalme A, Lesca G, Rudolf G, Bruneau N, Hirsch E, Arzimanoglou A, Motte J, de Saint Martin A, Boutry-Kryza N, Cloarec R, Benitto A, Ameil A, Edery P, Ryvlin P, De Bellescize J, Szepetowski P, Sanlaville D., Epilepsia 55(2), 2014
PMID: 24372385
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF., Nat Commun 5(), 2014
PMID: 24504326
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S., Ann Neurol 75(1), 2014
PMID: 24272827
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC, PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA., Ann Clin Transl Neurol 1(3), 2014
PMID: 24839611
Past and present definitions of epileptogenesis and its biomarkers.
Pitkänen A, Engel J., Neurotherapeutics 11(2), 2014
PMID: 24492975
DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA., Ann Neurol 75(5), 2014
PMID: 24591017
The hidden genetics of epilepsy-a clinically important new paradigm.
Thomas RH, Berkovic SF., Nat Rev Neurol 10(5), 2014
PMID: 24733163
Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation.
Prickett TD, Zerlanko BJ, Hill VK, Gartner JJ, Qutob N, Jiang J, Simaan M, Wunderlich J, Gutkind JS, Rosenberg SA, Samuels Y., J Invest Dermatol 134(9), 2014
PMID: 24739903
Towards the identification of a genetic basis for Landau-Kleffner syndrome.
Conroy J, McGettigan PA, McCreary D, Shah N, Collins K, Parry-Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM, Webb D, Ennis S, Lynch SA, King MD., Epilepsia 55(6), 2014
PMID: 24828792
Mechanical coupling maintains the fidelity of NMDA receptor-mediated currents.
Kazi R, Dai J, Sweeney C, Zhou HX, Wollmuth LP., Nat Neurosci 17(7), 2014
PMID: 24859202
Epilepsy: old syndromes, new genes.
Weckhuysen S, Korff CM., Curr Neurol Neurosci Rep 14(6), 2014
PMID: 24740805
Zinc dynamics and action at excitatory synapses.
Vergnano AM, Rebola N, Savtchenko LP, Pinheiro PS, Casado M, Kieffer BL, Rusakov DA, Mulle C, Paoletti P., Neuron 82(5), 2014
PMID: 24908489
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA, FORGE Canada Consortium, Majewski J, Bulman D, Boycott KM, Dyment DA., Epilepsia 55(7), 2014
PMID: 24903190
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G, 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS, EPICURE Consortium, EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA., Hum Mol Genet 23(22), 2014
PMID: 24939913
Genetic forms of epilepsies and other paroxysmal disorders.
Olson HE, Poduri A, Pearl PL., Semin Neurol 34(3), 2014
PMID: 25192505
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR, EuroEPINOMICS Consortium, Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F., Epilepsia 55(8), 2014
PMID: 24995671
Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.
Oliver KL, Lukic V, Thorne NP, Berkovic SF, Scheffer IE, Bahlo M., PLoS One 9(7), 2014
PMID: 25014031
[New aspects in the field of epilepsy].
Rosenow F, Klein KM, Strzelczyk A, Hamer HM, Menzler K, Bauer S, Knake S., Nervenarzt 85(8), 2014
PMID: 25022893
Zinc: an underappreciated modulatory factor of brain function.
Marger L, Schubert CR, Bertrand D., Biochem Pharmacol 91(4), 2014
PMID: 25130547
Epileptic encephalopathies: new genes and new pathways.
Nieh SE, Sherr EH., Neurotherapeutics 11(4), 2014
PMID: 25266964

32 References

Daten bereitgestellt von Europe PubMed Central.

The NMDA receptor complex as a therapeutic target in epilepsy: a review.
Ghasemi M, Schachter SC., Epilepsy Behav 22(4), 2011
PMID: 22056342
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Burki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kroll J, Dorn T, Kramer G, Synofzik M, Becker F, Weber YG, Lerche H, Bohm D, Biskup S., Epilepsia 53(8), 2012
PMID: 22612257
Strategies for multilocus linkage analysis in humans.
Lathrop GM, Lalouel JM, Julier C, Ott J., Proc. Natl. Acad. Sci. U.S.A. 81(11), 1984
PMID: 6587361
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P., Hum. Mutat. 30(10), 2009
PMID: 19585586
novoSNP, a novel computational tool for sequence variation discovery.
Weckx S, Del-Favero J, Rademakers R, Claes L, Cruts M, De Jonghe P, Van Broeckhoven C, De Rijk P., Genome Res. 15(3), 2005
PMID: 15741513
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, Li W, Dorfman R, Bali B, Wirrell E, Kugler SL, Mandelbaum DE, Wolf SM, McGoldrick P, Hardison H, Novotny EJ, Ju J, Greenberg DA, Russo JJ, Pal DK., Eur. J. Hum. Genet. 17(9), 2009
PMID: 19172991
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M., Genome Res. 17(11), 2007
PMID: 17921354
Thiol oxidation and altered NR2B/NMDA receptor functions in in vitro and in vivo pilocarpine models: implications for epileptogenesis.
Di Maio R, Mastroberardino PG, Hu X, Montero LM, Greenamyre JT., Neurobiol. Dis. 49(), 2012
PMID: 22824136
Molecular basis of NMDA receptor functional diversity.
Paoletti P., Eur. J. Neurosci. 33(8), 2011
PMID: 21395862
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R., Epilepsia 48(9), 2007
PMID: 17561957
Enhanced NMDA receptor-dependent thalamic excitation and network oscillations in stargazer mice.
Lacey CJ, Bryant A, Brill J, Huguenard JR., J. Neurosci. 32(32), 2012
PMID: 22875939
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Moller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nurnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T., Nat. Genet. 41(2), 2009
PMID: 19136953
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tonnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J, Stefanova I, Gillessen-Kaesbach G, von Spiczak S, van Baalen A, Boor R, Siebert R, Stephani U, Caliebe A., Epilepsia 51(9), 2010
PMID: 20384727
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH; IBSEN study group, Mathew CG, Schreiber S, Vatn MH, Moum B, Jahnsen J, Solberg C, Stray N, Henriksen M, Sauar J, Hoie O., Nat. Genet. 40(11), 2008
PMID: 18836448
Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.
Neubauer BA, Fiedler B, Himmelein B, Kampfer F, Lassker U, Schwabe G, Spanier I, Tams D, Bretscher C, Moldenhauer K, Kurlemann G, Weise S, Tedroff K, Eeg-Olofsson O, Wadelius C, Stephani U., Neurology 51(6), 1998
PMID: 9855510
The genetics of Dravet syndrome.
Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R., Epilepsia 52 Suppl 2(), 2011
PMID: 21463275
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE., Epilepsia 51(4), 2010
PMID: 20196795
Genetic deletion of NR3A accelerates glutamatergic synapse maturation.
Henson MA, Larsen RS, Lawson SN, Perez-Otano I, Nakanishi N, Lipton SA, Philpot BD., PLoS ONE 7(8), 2012
PMID: 22870318
Misplaced NMDA receptors in epileptogenesis contribute to excitotoxicity.
Frasca A, Aalbers M, Frigerio F, Fiordaliso F, Salio M, Gobbi M, Cagnotto A, Gardoni F, Battaglia GS, Hoogland G, Di Luca M, Vezzani A., Neurobiol. Dis. 43(2), 2011
PMID: 21575722
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K., Nat. Genet. 42(11), 2010
PMID: 20890276
The tower of Babel: survey on concepts and terminology in electrical status epilepticus in sleep and continuous spikes and waves during sleep in North America.
Fernandez IS, Chapman KE, Peters JM, Kothare SV, Nordli DR Jr, Jensen FE, Berg AT, Loddenkemper T., Epilepsia 54(4), 2012
PMID: 23163318
Changes in phosphorylation of the NMDA receptor in the rat hippocampus induced by status epilepticus.
Niimura M, Moussa R, Bissoon N, Ikeda-Douglas C, Milgram NW, Gurd JW., J. Neurochem. 92(6), 2005
PMID: 15748156
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti MP, Boulay C, De Bellescize J, Keo-Kosal P, Boutry-Kryza N, Edery P, Sanlaville D, Szepetowski P., Epilepsia 53(9), 2012
PMID: 22738016
Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration.
Vadlamudi L, Kjeldsen MJ, Corey LA, Solaas MH, Friis ML, Pellock JM, Nakken KO, Milne RL, Scheffer IE, Harvey AS, Hopper JL, Berkovic SF., Epilepsia 47(3), 2006
PMID: 16529620
Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves.
Pal DK, Li W, Clarke T, Lieberman P, Strug LJ., Genes Brain Behav. 9(8), 2010
PMID: 20825490
Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families.
Bali B, Kull LL, Strug LJ, Clarke T, Murphy PL, Akman CI, Greenberg DA, Pal DK., Epilepsia 48(12), 2007
PMID: 17662063

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