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.
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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
;
Finsterwalder, Katrin;
Franke, Andre;
Schilhabel, Markus
Alle
Einrichtung
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
Zitieren
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, Johannes R., Lal, Dennis, Reinthaler, Eva M., Steiner, Isabelle, Nothnagel, Michael, Alber, Michael, Geider, Kirsten, et al. 2013. “Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes”. Nature Genetics 45 (9): 1067-1072.
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.
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N-methyl-D-aspartate receptor subunit 2A variant (UNIPROT: Q59EW6)
Organism: Homo sapiens
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Organism: Homo sapiens
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Glutamate receptor ionotropic, NMDA 2A (UNIPROT: Q12879)
Organism: Homo sapiens
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Organism: Homo sapiens
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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
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
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
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
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
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
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
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
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
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
Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.
Addis L, Virdee JK, Vidler LR, Collier DA, Pal DK, Ursu D., Sci Rep 7(1), 2017
PMID: 28242877
Addis L, Virdee JK, Vidler LR, Collier DA, Pal DK, Ursu D., Sci Rep 7(1), 2017
PMID: 28242877
Progress in unraveling the genetic etiology of rolandic epilepsy.
Xiong W, Zhou D., Seizure 47(), 2017
PMID: 28351718
Xiong W, Zhou D., Seizure 47(), 2017
PMID: 28351718
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
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
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
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
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
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
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
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
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
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
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
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
Weber YG, Biskup S, Helbig KL, Von Spiczak S, Lerche H., Expert Rev Mol Diagn 17(8), 2017
PMID: 28548558
The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability.
Lee YJ, Hwang SK, Kwon S., J Epilepsy Res 7(1), 2017
PMID: 28775948
Lee YJ, Hwang SK, Kwon S., J Epilepsy Res 7(1), 2017
PMID: 28775948
Catastrophic Epilepsies of Childhood.
Howard MA, Baraban SC., Annu Rev Neurosci 40(), 2017
PMID: 28772100
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Linking early-life NMDAR hypofunction and oxidative stress in schizophrenia pathogenesis.
Hardingham GE, Do KQ., Nat Rev Neurosci 17(2), 2016
PMID: 26763624
Hardingham GE, Do KQ., Nat Rev Neurosci 17(2), 2016
PMID: 26763624
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
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
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
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
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
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
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
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
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
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
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
van Klink NE, van 't Klooster MA, Leijten FS, Jacobs J, Braun KP, Zijlmans M., Epilepsia 57(7), 2016
PMID: 27270830
Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects.
Lascano AM, Korff CM, Picard F., Mol Syndromol 7(4), 2016
PMID: 27781030
Lascano AM, Korff CM, Picard F., Mol Syndromol 7(4), 2016
PMID: 27781030
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
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
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
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
MicroRNA-139-5p negatively regulates NR2A-containing NMDA receptor in the rat pilocarpine model and patients with temporal lobe epilepsy.
Alsharafi WA, Xiao B, Li J., Epilepsia 57(11), 2016
PMID: 27731509
Alsharafi WA, Xiao B, Li J., Epilepsia 57(11), 2016
PMID: 27731509
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Yuan H, Low CM, Moody OA, Jenkins A, Traynelis SF., Mol Pharmacol 88(1), 2015
PMID: 25904555
The brain's code and its canonical computational motifs. From sensory cortex to the default mode network: A multi-scale model of brain function in health and disease.
Turkheimer FE, Leech R, Expert P, Lord LD, Vernon AC., Neurosci Biobehav Rev 55(), 2015
PMID: 25956253
Turkheimer FE, Leech R, Expert P, Lord LD, Vernon AC., Neurosci Biobehav Rev 55(), 2015
PMID: 25956253
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
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
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
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
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
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
El Achkar CM, Olson HE, Poduri A, Pearl PL., Curr Neurol Neurosci Rep 15(7), 2015
PMID: 26008807
Should epileptiform discharges be treated?
Sánchez Fernández I, Loddenkemper T, Galanopoulou AS, Moshé SL., Epilepsia 56(10), 2015
PMID: 26293670
Sánchez Fernández I, Loddenkemper T, Galanopoulou AS, Moshé SL., Epilepsia 56(10), 2015
PMID: 26293670
Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome.
Korff CM, Brunklaus A, Zuberi SM., Epilepsia 56(10), 2015
PMID: 26293471
Korff CM, Brunklaus A, Zuberi SM., Epilepsia 56(10), 2015
PMID: 26293471
Advancing epilepsy genetics in the genomic era.
Myers CT, Mefford HC., Genome Med 7(), 2015
PMID: 26302787
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
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
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
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
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
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
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
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
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
Pitkänen A, Engel J., Neurotherapeutics 11(2), 2014
PMID: 24492975
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.
Guerrini R, Marini C, Mantegazza M., Neurotherapeutics 11(2), 2014
PMID: 24664660
Guerrini R, Marini C, Mantegazza M., Neurotherapeutics 11(2), 2014
PMID: 24664660
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
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
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
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
DEPDC5 does it all: shared genetics for diverse epilepsy syndromes.
Poduri A., Ann Neurol 75(5), 2014
PMID: 24753000
Poduri A., Ann Neurol 75(5), 2014
PMID: 24753000
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
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
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
Weckhuysen S, Korff CM., Curr Neurol Neurosci Rep 14(6), 2014
PMID: 24740805
Zinc dynamics and action at excitatory synapses.
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