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, Hoertnagel K, Neidhardt J, et al. (2014)
Annals of Neurology 75(1): 147-154.

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Autor*in
Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, MichaelUniBi ; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hoertnagel, Konstanze; Neidhardt, John; Ruf, Susanne
Alle
Abstract / Bemerkung
Objective: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations. Methods: Using a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes known to contribute to epilepsy and/or intellectual disability (ID). After detection of mutations in a novel epilepsy gene, we investigated functional effects in Xenopus laevis oocytes and screened a follow-up cohort. Results: We revealed de novo mutations in GRIN2B encoding the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor in 2 individuals with West syndrome and severe developmental delay as well as 1 individual with ID and focal epilepsy. The patient with ID and focal epilepsy had a missense mutation in the extracellular glutamate-binding domain (p.Arg540His), whereas both West syndrome patients carried missense mutations within the NR2B ion channel-forming re-entrant loop (p.Asn615Ile, p.Val618Gly). Subsequent screening of 47 patients with unexplained infantile spasms did not reveal additional de novo mutations, but detected a carrier of a novel inherited GRIN2B splice site variant in close proximity (c.2011-5_2011-4delTC). Mutations p.Asn615Ile and p.Val618Gly cause a significantly reduced Mg2+ block and higher Ca2+ permeability, leading to a dramatically increased Ca2+ influx, whereas p.Arg540His caused less severe disturbance of channel function, corresponding to the milder patient phenotype. Interpretation: We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. Severely disturbed channel function corresponded to severe clinical phenotypes, underlining the important role of facilitated NMDA receptor signaling in epileptogenesis.
Erscheinungsjahr
2014
Zeitschriftentitel
Annals of Neurology
Band
75
Ausgabe
1
Seite(n)
147-154
ISSN
0364-5134
Page URI
https://pub.uni-bielefeld.de/record/2671368

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Lemke JR, Hendrickx R, Geider K, et al. GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy. Annals of Neurology. 2014;75(1):147-154.
Lemke, J. R., Hendrickx, R., Geider, K., Laube, B., Schwake, M., Harvey, R. J., James, V. M., et al. (2014). GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy. Annals of Neurology, 75(1), 147-154. doi:10.1002/ana.24073
Lemke, J. R., Hendrickx, R., Geider, K., Laube, B., Schwake, M., Harvey, R. J., James, V. M., Pepler, A., Steiner, I., Hoertnagel, K., et al. (2014). GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy. Annals of Neurology 75, 147-154.
Lemke, J.R., et al., 2014. GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy. Annals of Neurology, 75(1), p 147-154.
J.R. Lemke, et al., “GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy”, Annals of Neurology, vol. 75, 2014, pp. 147-154.
Lemke, J.R., Hendrickx, R., Geider, K., Laube, B., Schwake, M., Harvey, R.J., James, V.M., Pepler, A., Steiner, I., Hoertnagel, K., Neidhardt, J., Ruf, S., Wolff, M., Bartholdi, D., Caraballo, R., Platzer, K., Suls, A., De Jonghe, P., Biskup, S., Weckhuysen, S.: GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy. Annals of Neurology. 75, 147-154 (2014).
Lemke, Johannes R., Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J., James, Victoria M., Pepler, Alex, Steiner, Isabelle, Hoertnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, and Weckhuysen, Sarah. “GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy”. Annals of Neurology 75.1 (2014): 147-154.

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Daten bereitgestellt von Europe PubMed Central.

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
De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms.
Wang Q, Liu Z, Lin Z, Zhang R, Lu Y, Su W, Li F, Xu X, Tu M, Lou Y, Zhao J, Zheng X., Front Genet 10(), 2019
PMID: 31354784
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
Liu Z, Li Z, Zhi X, Du Y, Lin Z, Wu J., Mol Neurobiol 55(3), 2018
PMID: 28386848
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.
Soto D, Olivella M, Grau C, Armstrong J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, García-Cazorla À, Altafaj X., Biol Psychiatry 83(2), 2018
PMID: 28734458
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
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
Identification of potential drug targets for treatment of refractory epilepsy using network pharmacology.
Bezhentsev V, Ivanov S, Kumar S, Goel R, Poroikov V., J Bioinform Comput Biol 16(1), 2018
PMID: 29361895
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
Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.
Fedele L, Newcombe J, Topf M, Gibb A, Harvey RJ, Smart TG., Nat Commun 9(1), 2018
PMID: 29511171
Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit.
Vyklicky V, Krausova B, Cerny J, Ladislav M, Smejkalova T, Kysilov B, Korinek M, Danacikova S, Horak M, Chodounska H, Kudova E, Vyklicky L., Front Mol Neurosci 11(), 2018
PMID: 29681796
ACTH and PMX53 recover synaptic transcriptome alterations in a rat model of infantile spasms.
Iacobaş DA, Chachua T, Iacobaş S, Benson MJ, Borges K, Velíšková J, Velíšek L., Sci Rep 8(1), 2018
PMID: 29636502
BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors.
Koh HY, Kim SH, Jang J, Kim H, Han S, Lim JS, Son G, Choi J, Park BO, Do Heo W, Han J, Lee HJ, Lee D, Kang HC, Shong M, Paik SB, Kim DS, Lee JH., Nat Med 24(11), 2018
PMID: 30224756
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
Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.
O'Callaghan FJ, Edwards SW, Alber FD, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay M, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP, participating investigators., Lancet Neurol 16(1), 2017
PMID: 27838190
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A., Hum Mutat 38(2), 2017
PMID: 27862604
Epileptic spasms - 175 years on: Trying to teach an old dog new tricks.
Wilmshurst JM, Ibekwe RC, O'Callaghan FJK., Seizure 44(), 2017
PMID: 27989601
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
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
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE., Nat Genet 49(4), 2017
PMID: 28191889
Autism genetics: opportunities and challenges for clinical translation.
Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI, Hallmayer JF., Nat Rev Genet 18(6), 2017
PMID: 28260791
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
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
Lin Z, Liu Z, Li X, Li F, Hu Y, Chen B, Wang Z, Liu Y., Sci Rep 7(1), 2017
PMID: 28325891
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.
Helbig KL, Mroske C, Moorthy D, Sajan SA, Velinov M., Clin Genet 92(4), 2017
PMID: 28195318
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
DEPDC5 as a potential therapeutic target for epilepsy.
Myers KA, Scheffer IE., Expert Opin Ther Targets 21(6), 2017
PMID: 28406046
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
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
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
CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility.
Okuda K, Kobayashi S, Fukaya M, Watanabe A, Murakami T, Hagiwara M, Sato T, Ueno H, Ogonuki N, Komano-Inoue S, Manabe H, Yamaguchi M, Ogura A, Asahara H, Sakagami H, Mizuguchi M, Manabe T, Tanaka T., Neurobiol Dis 106(), 2017
PMID: 28688852
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
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI, Epilepsy Genomics Study, Suri M, Elmslie F, Deciphering Developmental Disorders Study, Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ., Am J Hum Genet 101(2), 2017
PMID: 28777935
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.
Lelieveld SH, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman JA, Brunner HG, Vissers LELM, Gilissen C., Am J Hum Genet 101(3), 2017
PMID: 28867141
Models for discovery of targeted therapy in genetic epileptic encephalopathies.
Maljevic S, Reid CA, Petrou S., J Neurochem 143(1), 2017
PMID: 28742937
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL., Am J Hum Genet 101(4), 2017
PMID: 28942967
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
Lei TY, Fu F, Li R, Wang D, Wang RY, Jing XY, Deng Q, Li ZZ, Liu ZQ, Yang X, Li DZ, Liao C., Nephrol Dial Transplant 32(10), 2017
PMID: 28387813
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
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
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.
Li J, Cai T, Jiang Y, Chen H, He X, Chen C, Li X, Shao Q, Ran X, Li Z, Xia K, Liu C, Sun ZS, Wu J., Mol Psychiatry 21(2), 2016
PMID: 25849321
Prioritizing the development of mouse models for childhood brain disorders.
Ogden KK, Ozkan ED, Rumbaugh G., Neuropharmacology 100(), 2016
PMID: 26231830
Novel genetic causes for cerebral visual impairment.
Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB., Eur J Hum Genet 24(5), 2016
PMID: 26350515
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
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL, Lukic V, Freytag S, Scheffer IE, Berkovic SF, Bahlo M., Neurology: Genetics 2(1), 2016
PMID: 27066588
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, Tang S, Helbig I., Genet Med 18(9), 2016
PMID: 26795593
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA., PLoS One 11(3), 2016
PMID: 26990884
A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC., Neurology 86(17), 2016
PMID: 27029629
Effects of sex and DTNBP1 (dysbindin) null gene mutation on the developmental GluN2B-GluN2A switch in the mouse cortex and hippocampus.
Sinclair D, Cesare J, McMullen M, Carlson GC, Hahn CG, Borgmann-Winter KE., J Neurodev Disord 8(), 2016
PMID: 27134685
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
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong J, Esteller M., Hum Genet 135(12), 2016
PMID: 27541642
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
Human GRIN2B variants in neurodevelopmental disorders.
Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF., J Pharmacol Sci 132(2), 2016
PMID: 27818011
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
Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.
Córdoba M, Rodriguez S, González Morón D, Medina N, Kauffman MA., Clin Genet 87(3), 2015
PMID: 25039795
NMDA receptor subunit mutations in neurodevelopmental disorders.
Burnashev N, Szepetowski P., Curr Opin Pharmacol 20(), 2015
PMID: 25498981
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D, AR working group of the EuroEPINOMICS RES Consortium, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J., Hum Mol Genet 24(8), 2015
PMID: 25552650
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
Epilepsy genetics: the ongoing revolution.
Lesca G, Depienne C., Rev Neurol (Paris) 171(6-7), 2015
PMID: 26003806
Clinical Genetic Testing in Epilepsy.
Mefford HC., Epilepsy Curr 15(4), 2015
PMID: 26316867
Advancing epilepsy genetics in the genomic era.
Myers CT, Mefford HC., Genome Med 7(), 2015
PMID: 26302787
Next-Generation Sequencing in Intellectual Disability.
Carvill GL, Mefford HC., J Pediatr Genet 4(3), 2015
PMID: 27617123
The contribution of next generation sequencing to epilepsy genetics.
Møller RS, Dahl HA, Helbig I., Expert Rev Mol Diagn 15(12), 2015
PMID: 26565596
Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.
Soto D, Altafaj X, Sindreu C, Bayés A., Commun Integr Biol 7(1), 2014
PMID: 24605182
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA., Mol Genet Metab 113(3), 2014
PMID: 24863970
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
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium., Am J Hum Genet 95(4), 2014
PMID: 25262651
De novo mutations in moderate or severe intellectual disability.
Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL., PLoS Genet 10(10), 2014
PMID: 25356899

30 References

Daten bereitgestellt von Europe PubMed Central.

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

Roger J., 2005
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J., Am. J. Hum. Genet. 72(6), 2003
PMID: 12736870
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N., Am. J. Hum. Genet. 86(6), 2010
PMID: 20493457

Edvardson S, Baumann AM, Muhlenhoff M., 2013
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB., Eur. J. Hum. Genet. 19(12), 2011
PMID: 21694734
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
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, Schilhabel M, Jahn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Moller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero Lopez R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinbock H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmuller J, Toliat MR, Thiele H, Nurnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S., Nat. Genet. 45(9), 2013
PMID: 23933819
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC., Nat. Genet. 45(9), 2013
PMID: 23933818
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P., Nat. Genet. 45(9), 2013
PMID: 23933820
De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR., Nature 501(7466), 2013
PMID: 23934111
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE., N. Engl. J. Med. 367(20), 2012
PMID: 23033978
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.
Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A, Rubo J, Zabel B, Zenker M, Hebebrand J, Wieczorek D., Behav Brain Funct 9(), 2013
PMID: 23718928
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE., Nat. Genet. 43(6), 2011
PMID: 21572417
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J., Science 338(6114), 2012
PMID: 23160955
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.
Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion E, Millet B; S2D team, Fathalli F, Joober R, Rapoport JL, DeLisi LE, Fombonne E, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Drapeau P, Lafreniere RG, Rouleau GA, Krebs MO, Bachand I, Chicoine M, Cote M, Daignault K, Desjarlais A, Diallo O, Dobrzeniecka S, Duguay J, Drits M, Jolivet P, Karamera L, Kuku F, Lachapelle K, Laliberte G, Laurent S, Levert A, Liao M, Marineau C, Marino C, Noreau A, Peng H, Raymond A, Reynolds A, Rochefort D, St-Onge J, Thibodeau P, Tsurudome K, Yang Y, Leroy S, Bendjemaa N, Ossian K, Chayet M, Mouaffak F., Transl Psychiatry 1(), 2011
PMID: 22833210
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia andautism spectrum disorders
Kenny EM, Cormican P, Furlong S., 0
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
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR., Hum. Mutat. 27(9), 2006
PMID: 16865694
Subunit arrangement and function in NMDA receptors.
Furukawa H, Singh SK, Mancusso R, Gouaux E., Nature 438(7065), 2005
PMID: 16281028
UCSF Chimera--a visualization system for exploratory research and analysis.
Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, Ferrin TE., J Comput Chem 25(13), 2004
PMID: 15264254
Potentiation of Glycine-Gated NR1/NR3A NMDA Receptors Relieves Ca-Dependent Outward Rectification.
Madry C, Betz H, Geiger JR, Laube B., Front Mol Neurosci 3(), 2010
PMID: 20407581
NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease.
Paoletti P, Bellone C, Zhou Q., Nat. Rev. Neurosci. 14(6), 2013
PMID: 23686171
Evidence for a tetrameric structure of recombinant NMDA receptors.
Laube B, Kuhse J, Betz H., J. Neurosci. 18(8), 1998
PMID: 9526012
Molecular basis of NMDA receptor functional diversity.
Paoletti P., Eur. J. Neurosci. 33(8), 2011
PMID: 21395862
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM., Lancet 380(9854), 2012
PMID: 23020937
The NMDA receptor complex as a therapeutic target in epilepsy: a review.
Ghasemi M, Schachter SC., Epilepsy Behav 22(4), 2011
PMID: 22056342

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