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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Open accessAbstract
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 in various neuropsychiatric disorders including autism, intellectual disability and schizophrenia. Microdeletions at 15q13.3 have recently been shown to constitute a strong genetic risk factor for common idiopathic generalized epilepsy syndromes, implicating that other recurrent microdeletions may also be involved in epileptogenesis. This study aimed to investigate the impact of five microdeletions at the genomic hotspot regions 1q21.1, 15q11.2, 16p11.2, 16p13.11 and 22q11.2 on the genetic risk to common idiopathic generalized epilepsy syndromes. The candidate microdeletions were assessed by high-density single nucleotide polymorphism arrays in 1234 patients with idiopathic generalized epilepsy from North-western Europe and 3022 controls from the German population. Microdeletions were validated by quantitative polymerase chain reaction and their breakpoints refined by array comparative genomic hybridization. In total, 22 patients with idiopathic generalized epilepsy (1.8%) carried one of the five novel microdeletions compared with nine controls (0.3%) (odds ratio = 6.1; 95% confidence interval 2.8-13.2; chi(2) = 26.7; 1 degree of freedom; P = 2.4 x 10(-7)). Microdeletions were observed at 1q21.1 [Idiopathic generalized epilepsy (IGE)/control: 1/1], 15q11.2 (IGE/control: 12/6), 16p11.2 IGE/control: 1/0, 16p13.11 (IGE/control: 6/2) and 22q11.2 (IGE/control: 2/0). Significant associations with IGEs were found for the microdeletions at 15q11.2 (odds ratio = 4.9; 95% confidence interval 1.8-13.2; P = 4.2 x 10(-4)) and 16p13.11 (odds ratio = 7.4; 95% confidence interval 1.3-74.7; P = 0.009). Including nine patients with idiopathic generalized epilepsy in this cohort with known 15q13.3 microdeletions (IGE/control: 9/0), parental transmission could be examined in 14 families. While 10 microdeletions were inherited (seven maternal and three paternal transmissions), four microdeletions occurred de novo at 15q13.3 (n = 1), 16p13.11 (n = 2) and 22q11.2 (n = 1). Eight of the transmitting parents were clinically unaffected, suggesting that the microdeletion itself is not sufficient to cause the epilepsy phenotype. Although the microdeletions investigated are individually rare (<1%) in patients with idiopathic generalized epilepsy, they collectively seem to account for a significant fraction of the genetic variance in common idiopathic generalized epilepsy syndromes. The present results indicate an involvement of microdeletions at 15q11.2 and 16p13.11 in epileptogenesis and strengthen the evidence that recurrent microdeletions at 15q11.2, 15q13.3 and 16p13.11 confer a pleiotropic susceptibility effect to a broad range of neuropsychiatric disorders.
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“a review of reported data from control cohorts (n = 66,462 subjects) summarized to date show that about 0.25% of controls are found with the 15q11.2 BP1–BP2 microdeletion [18,27,28,29,30,31].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [29]
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“The medical literature surrounding this microdeletion syndrome and seizures indicate that this chromosomal anomaly may be a risk factor for epilepsy [29,41,42,43].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [29]
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“epilepsy (OR 4.9)4”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [4]
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Cites
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · cited 3×
“2 was based on previous large-scale copy number variation analyses (1q21.1: Brunetti-Pierri et al., 2008; Mefford et al., 2008; Schizophrenia Consortium, 2008; Stefansson et al., 2008; Need et al., 2009; 15q11.2: Stefansson et al., 2008; Kirov et al., 2009; 16p11.2: Sebat et al., 2007; Kumar et al., 2008; Marshall et…”
BackgroundMethodSelf-citationLarge recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Mechanisms of change in gene copy number
Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804
Self-citation
Flagged first, then by citations
Research works printed but not linked: 2
- 2005, 46, 21
- 2005, 46, 10
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Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882
Self-citationAnalysis of shared heritability in common disorders of the brain
The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science · doi:10.1126/science.aap8757 · Cited by 1,924
Self-citationExome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203
Self-citationDevinsky, O., Vezzani, A., O'Brien, T. J., Jetté, N., Scheffer, I. E., de Curtis, M., & Perucca, P. (2018) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2018.24 · Cited by 998
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., Bjornsdottir, G., Walters, G. B., Jonsdottir, G. A., Doyle, O. M., et al. (2014) · Nature · doi:10.1038/nature12818 · Cited by 699
Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572
Autism spectrum disorders-a genetics review
Miles, J. H. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3181ff67ba · Cited by 567
Hirsch, E., French, J., Scheffer, I. E., Bogacz, A., Alsaadi, T., Sperling, M. R., Abdulla, F., Zuberi, S. M., Trinka, E., Specchio, N., et al. (2022) · Epilepsia · doi:10.1111/epi.17236 · Cited by 502
Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474
Self-citationAnalysis of copy number variations at 15 schizophrenia-associated loci
Rees, E., Walters, J. T. R., Georgieva, L., Isles, A. R., Chambert, K. D., Richards, A. L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., et al. (2014) · British Journal of Psychiatry · doi:10.1192/bjp.bp.113.131052 · Cited by 443
Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002521 · Cited by 429
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 398
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
Girirajan, S., Brkanac, Z., Coe, B. P., Baker, C. A., Vives, L., Vu, T. H., Shafer, N., Bernier, R., Ferrero, G. B., Silengo, M., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002334 · Cited by 337
Self-citationIon Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
Oyrer, J., Maljevic, S., Scheffer, I. E., Berkovic, S. F., Petrou, S., & Reid, C. A. (2018) · Pharmacological Reviews · doi:10.1124/pr.117.014456 · Cited by 315
Genomics, Intellectual Disability, and Autism
Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1114194 · Cited by 329
Self-citationContribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Soemedi, R., Wilson, I. J., Bentham, J., Darlay, R., Töpf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.003 · Cited by 315
The hidden genetics of epilepsy—a clinically important new paradigm
Thomas, R. H., & Berkovic, S. F. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.62 · Cited by 300
The Role of Genetics in the Etiology of Schizophrenia
Gejman, P. V., Sanders, A. R., & Duan, J. (2010) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2009.12.003 · Cited by 312
Bagnall, R. D., Crompton, D. E., Petrovski, S., Lam, L., Cutmore, C., Garry, S. I., Sadleir, L. G., Dibbens, L. M., Cairns, A. G., Kivity, S., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24596 · Cited by 289
Phenotypic variability and genetic susceptibility to genomic disorders
Girirajan, S., & Eichler, E. E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq366 · Cited by 281
Self-citationRare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
Heinzen, E. L., Radtke, R. A., Urban, T. J., Cavalleri, G. L., Depondt, C., Need, A. C., Walley, N. M., Nicoletti, P., Ge, D., Catarino, C. B., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.03.018 · Cited by 256
Rare copy number variants are an important cause of epileptic encephalopathies
Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22645 · Cited by 247
Self-citationAdvancing epilepsy genetics in the genomic era
Myers, C. T., & Mefford, H. C. (2015) · Genome Medicine · doi:10.1186/s13073-015-0214-7 · Cited by 253
Self-citationThe 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
Cox, D., & Butler, M. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16024068 · Cited by 243
“2 BP1–BP2 microdeletion [18,27–31].”
BackgroundYoon, K.-J., Nguyen, H. N., Ursini, G., Zhang, F., Kim, N.-S., Wen, Z., Makri, G., Nauen, D., Shin, J. H., Park, Y., et al. (2014) · Cell Stem Cell · doi:10.1016/j.stem.2014.05.003 · Cited by 240
Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., Robin, N. H., Youngs, E. L., Gadi, I. K., Keitges, E., Jaswaney, V. L., Papenhausen, P. R., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-0970-4 · Cited by 257
Perucca, P., Bahlo, M., & Berkovic, S. F. (2020) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120219-074937 · Cited by 244
Copy number variations in neurodevelopmental disorders
Grayton, H. M., Fernandes, C., Rujescu, D., & Collier, D. A. (2012) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2012.07.005 · Cited by 217
A roadmap for precision medicine in the epilepsies
† (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00199-4 · Cited by 197
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Mullen, S. A., Carvill, G. L., Bellows, S., Bayly, M. A., Berkovic, S. F., Dibbens, L. M., Scheffer, I. E., & Mefford, H. C. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a95829 · Cited by 188
Self-citationThe Genetics of Microdeletion and Microduplication Syndromes: An Update
Watson, C. T., Marquès‐Bonet, T., Sharp, A. J., & Mefford, H. C. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153408 · Cited by 189
Self-citationGenetics of schizophrenia: new findings and challenges
Gejman, P. V., Sanders, A. R., & Kendler, K. S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082410-101459 · Cited by 183
Lesca, G., Rudolf, G., Labalme, A., Hirsch, É., Arzimanoglou, A. A., Genton, P., Motte, J. E., Martin, A. D. S., Valenti, M., Boulay, C., et al. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03559.x · Cited by 180
Copy number variation plays an important role in clinical epilepsy
Olson, H. E., Shen, Y., Avallone, J., Sheidley, B. R., Pinsky, R., Bergin, A. M. R., Berry, G. T., Duffy, F. H., Ekşioğlu, Y. Z., Harris, D. J., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24178 · Cited by 177
The genetics of neurodevelopmental disease
Mitchell, K. J. (2011) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2010.08.009 · Cited by 164
Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
Zhu, M., Need, A. C., Han, Y., Ge, D., Maia, J. M., Zhu, Q., Heinzen, E. L., Cirulli, E. T., Pelak, K., He, M., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.07.004 · Cited by 168
Epilepsy genetics — past, present, and future
Poduri, A., & Lowenstein, D. H. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.005 · Cited by 170
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
Mullen, S. A., Suls, A., Jonghe, P. D., Berkovic, S. F., & Scheffer, I. E. (2010) · Neurology · doi:10.1212/wnl.0b013e3181eb58b4 · Cited by 160
Self-citationMale-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders
Tropeano, M., Ahn, J. W., Dobson, R. J. B., Breen, G., Rucker, J., Dixit, A., Pal, D. K., McGuffin, P., Farmer, A., White, P. S., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0061365 · Cited by 154
Steffens, M., Leu, C., Ruppert, A., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds373 · Cited by 150
Self-citationCommon genetic variation and susceptibility to partial epilepsies: a genome-wide association study
Kasperavičiūtė, D., Catarino, C. B., Heinzen, E. L., Depondt, C., Cavalleri, G. L., Caboclo, L. O. S. F., Tate, S. K., Jamnadas-Khoda, J., Chinthapalli, K., Clayton, L. M. S., et al. (2010) · Brain · doi:10.1093/brain/awq130 · Cited by 153
Recent advances in the molecular genetics of epilepsy
Hildebrand, M. S., Dahl, H. M., Damiano, J. A., Smith, R. J. H., Scheffer, I. E., & Berkovic, S. F. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101448 · Cited by 148
16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders
Ramalingam, A., Zhou, X.-G., Fiedler, S. D., Brawner, S. J., Joyce, J. M., Liu, H.-Y., & Yu, S. (2011) · Journal of Human Genetics · doi:10.1038/jhg.2011.42 · Cited by 151
Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms
Manoli, D. S., & State, M. W. (2021) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2020.20111608 · Cited by 159
Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study
McGrath, L. M., Yu, D., Marshall, C., Davis, L. K., Thiruvahindrapuram, B., Li, B., Cappi, C., Gerber, G., Wolf, A., Schroeder, F. A., et al. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2014.04.022 · Cited by 141
Epilepsy genetics: clinical impacts and biological insights
Ellis, C. A., Petrovski, S., & Berkovic, S. F. (2019) · The Lancet Neurology · doi:10.1016/s1474-4422(19)30269-8 · Cited by 140
Jarick, I., Vogel, C. I. G., Scherag, S., Schäfer, H., Hebebrand, J., Hinney, A., & Scherag, A. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq518 · Cited by 139
High rate of disease-related copy number variations in childhood onset schizophrenia
Ahn, K., Gotay, N., Andersen, T. M., Anvari, A. A., Gochman, P., Lee, Y., Sanders, S., Guha, S., Darvasi, A., Glessner, J., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.59 · Cited by 133
Genetics of recessive cognitive disorders
Musante, L., & Ropers, H. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.09.008 · Cited by 144
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
1q21.1 Study Group, Rosenfeld, J. A., Traylor, R. N., Schaefer, G. B., McPherson, E. W., Ballif, B. C., Klopocki, E., Mundlos, S., Shaffer, L. G., & Aylsworth, A. S. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.6 · Cited by 134
Epilepsy and Autism: Neurodevelopmental Perspective
Tuchman, R. F., & Cuccaro, M. L. (2011) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-011-0195-x · Cited by 137
Merner, N. D., Chandler, M. R., Bourassa, C. V., Liang, B., Khanna, A. R., Dion, P. A., Rouleau, G. A., & Kahle, K. T. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00386 · Cited by 129
Torres, F., Barbosa, M., & Maciel, P. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103366 · Cited by 126
Davenport, E. C., Szulc, B. R., Drew, J., Taylor, J., Morgan, T., Higgs, N. F., López-Doménech, G., & Kittler, J. T. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.01.092 · Cited by 125
The genetic variability and commonality of neurodevelopmental disease
Coe, B. P., Girirajan, S., & Eichler, E. E. (2012) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31327 · Cited by 132
Self-citationRegulation of neuronal migration, an emerging topic in autism spectrum disorders
Reiner, O., Karzbrun, E., Kshirsagar, A., & Kaibuchi, K. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13403 · Cited by 129
The human clinical phenotypes of altered CHRNA7 copy number
Gillentine, M. A., & Schaaf, C. P. (2015) · Biochemical Pharmacology · doi:10.1016/j.bcp.2015.06.012 · Cited by 126
Vanlerberghe, C., Petit, F., Malan, V., Vincent‐Delorme, C., Bouquillon, S., Boute, O., Holder‐Espinasse, M., Delobel, B., Duban‐Bedu, B., Vallée, L., et al. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.01.002 · Cited by 128
Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182217a06 · Cited by 115
Juvenile myoclonic epilepsy: A system disorder of the brain
Wolf, P., Yacubian, E. M. T., AVANZINI, G., Sander, T., Schmitz, B., Wandschneider, B., & Koepp, M. J. (2015) · Epilepsy Research · doi:10.1016/j.eplepsyres.2015.04.008 · Cited by 117
Self-citationThe neurology of autism spectrum disorders
Jeste, S. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283446450 · Cited by 138
Phenotypic manifestations of copy number variation in chromosome 16p13.11
Nagamani, S. C. S., Erez, A., Bader, P. I., Lalani, S. R., Scott, D. A., Scaglia, F., Plon, S. E., Tsai, C.-H., Reimschisel, T. E., Roeder, E. R., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.184 · Cited by 119
Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTor
Oguro-Ando, A., Rosensweig, C., Herman, E., Nishimura, Y., Werling, D., Bill, B. R., Berg, J. M., Gao, F., Coppola, G., Abrahams, B. S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.124 · Cited by 117
Kerner, B. (2014) · The Application of Clinical Genetics · doi:10.2147/tacg.s39297 · Cited by 126
The Genetic Architecture of Schizophrenia: New Mutations and Emerging Paradigms
Rodriguez‐Murillo, L., Gogos, J. A., & Karayiorgou, M. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-072010-091100 · Cited by 121
Hochstenbach, R., Buizer‐Voskamp, J. E., Vorstman, J. A. S., & Ophoff, R. A. (2011) · Cytogenetic and Genome Research · doi:10.1159/000332928 · Cited by 114
Paciorkowski, A. R., Keppler‐Noreuil, K. M., Robinson, L. K., Sullivan, C. T., Sajan, S. A., Christian, S. L., Bukshpun, P., Gabriel, S. B., Gleeson, J. G., Sherr, E. H., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35969 · Cited by 111
CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome
Abekhoukh, S., & Bardoni, B. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00081 · Cited by 110
Srebniak, M. I., Boter, M., Oudesluijs, G., Joosten, M., Govaerts, L. C. P., Opstal, D. V., & Galjaard, R. H. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.119 · Cited by 108
Jarick, I., Volckmar, A., Pütter, C., Pechlivanis, S., Nguyen, T. T., Dauvermann, M. R., Beck, S., Albayrak, Ö., Scherag, S., Gilsbach, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.161 · Cited by 111
Self-citationGenetic and epigenetic mechanisms of epilepsy: a review
Chen, T., Giri, M., Xia, Z., Subedi, Y. N., & Li, Y. (2017) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s142032 · Cited by 111
Borlot, F., Regan, B. M., Bassett, A. S., Stavropoulos, D. J., & Andrade, D. M. (2017) · JAMA Neurology · doi:10.1001/jamaneurol.2017.1775 · Cited by 107
Heinzen, E. L., Depondt, C., Cavalleri, G. L., Ruzzo, E. K., Walley, N. M., Need, A. C., Ge, D., He, M., Cirulli, E. T., Zhao, Q., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.016 · Cited by 102
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Butler, M. G. (2017) · Journal of Intellectual Disability Research · doi:10.1111/jir.12382 · Cited by 102
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Boot, E., Óskarsdóttir, S., Loo, J. C. Y., Crowley, T. B., Orchanian‐Cheff, A., Andrade, D. M., Arganbright, J. M., Castelein, R. M., Cserti-Gazdewich, C. M., de Reuver, S., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2022.11.012 · Cited by 107
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Lal, D., Ruppert, A., Trucks, H., Schulz, H., de Kovel, C. G. F., Trenité, D. G. A. K.-N., Sonsma, A. C. M., Koeleman, B. P. C., Lindhout, D., Weber, Y. G., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005226 · Cited by 101
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De Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants
Rees, E., Moskvina, V., Owen, M. J., O'Donovan, M. C., & Kirov, G. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.07.011 · Cited by 94
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Weber, Y., Biskup, S., Helbig, K., von Spiczak, S., & Lerche, H. (2017) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2017.1335598 · Cited by 87
Self-citationTakano, K., Liu, D., Tarpey, P. S., Gallant, E. M., Lam, A., Witham, S., Alexov, E., Chaubey, A., Stevenson, R. E., Schwartz, C. E., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds292 · Cited by 99
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Orsini, A. A., Zara, F., & Striano, P. (2017) · Neuroscience Letters · doi:10.1016/j.neulet.2017.05.014 · Cited by 91
Copy Number Variation Disorders
Shaikh, T. H. (2017) · Current Genetic Medicine Reports · doi:10.1007/s40142-017-0129-2 · Cited by 104
Describing the genetic architecture of epilepsy through heritability analysis
Speed, D., O'Brien, T. J., Palotie, A. V., Shkura, K., Marson, A. G., Balding, D. J., & Johnson, M. R. (2014) · Brain · doi:10.1093/brain/awu206 · Cited by 91
Epi4K: Gene discovery in 4,000 genomes
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Rare copy number variation in cerebral palsy
McMichael, G., Girirajan, S., Moreno-De-Luca, A., Gécz, J., Shard, C., Nguyen, L. S., Nicholl, J. K., Gibson, C. S., Haan, E., Eichler, E. E., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.93 · Cited by 89
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von der Lippe, C., Rustad, C., Heimdal, K., & Rødningen, O. K. (2011) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.12.008 · Cited by 86
Ohnologs are overrepresented in pathogenic copy number mutations
McLysaght, A., Makino, T., Grayton, H. M., Tropeano, M., Mitchell, K. J., Vassos, E., & Collier, D. A. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1309324111 · Cited by 88
May, P., Girard, S., Harrer, M., Bobbili, D. R., Schubert, J., Wolking, S., Becker, F., Lachance‐Touchette, P., Meloche, C., Gravel, M., et al. (2018) · The Lancet Neurology · doi:10.1016/s1474-4422(18)30215-1 · Cited by 83
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Beaudet, A. L. (2013) · Child Development · doi:10.1111/cdev.12050 · Cited by 85
Grozeva, D., Conrad, D. F., Barnes, C. P., Hurles, M. E., Owen, M. J., O’Donovan, M. C., Craddock, N. J., & Kirov, G. (2011) · Schizophrenia Research · doi:10.1016/j.schres.2011.11.004 · Cited by 83
Lo‐Castro, A., & Curatolo, P. (2013) · Brain and Development · doi:10.1016/j.braindev.2013.04.013 · Cited by 86
Chowdhury, F. A., Elwes, R. D. C., Koutroumanidis, M., Morris, R. G., Nashef, L. A. M., & Richardson, M. P. (2014) · Epilepsia · doi:10.1111/epi.12604 · Cited by 82
Analysis of Shared Heritability in Common Disorders of the Brain
(2016) · doi:10.1101/048991 · Cited by 82
Self-citationMicrodeletion and Microduplication Syndromes
Vissers, L. E. L. M., & Stankiewicz, P. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_2 · Cited by 86
Feenstra, I., Hanemaaijer, N., Sikkema‐Raddatz, B., Yntema, H. G., Dijkhuizen, T., Lugtenberg, D., Verheij, J., Green, A., Hordijk, R., Reardon, W., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.120 · Cited by 80
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Niestroj, L., Pérez‐Palma, E., Howrigan, D. P., Zhou, Y., Cheng, F., Saarentaus, E., Nürnberg, P., Stevelink, R., Daly, M. J., Palotie, A. V., et al. (2020) · Brain · doi:10.1093/brain/awaa171 · Cited by 81
Self-citation
Metadata
- Authors
- de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., Obermeier, T., Kleefuss-Lie, A. A., Hallmann, K., Steffens, M., Gaus, V., Klein, K. M., Hamer, H. M., Rosenow, F., Brilstra, E. H., Kasteleijn-Nolst Trenite, D., Swinkels, M. E. M., Weber, Y. G., Unterberger, I., Zimprich, F., Urak, L., Feucht, M., Fuchs, K., Moller, R. S., Hjalgrim, H., De Jonghe, P., Suls, A., Ruckert, I.-M., Wichmann, H.-E., Franke, A., Schreiber, S., Nurnberg, P., Elger, C. E., Lerche, H., Stephani, U., Koeleman, B. P. C., Lindhout, D., Eichler, E. E., & Sander, T.
- Affiliations
- University Medical Center Utrecht (NL)
- University of Cologne (DE)
- University of Washington (US)
- University Hospital Schleswig-Holstein (DE)
- University of Bonn (DE)
- Humboldt-Universität zu Berlin (DE)
- Philipps University of Marburg (DE)
- Universität Ulm (DE)
- Innsbruck Medical University (AT)
- Medical University of Vienna (AT)
- University of Antwerp (BE)
- Helmholtz Munich (DE)
- Howard Hughes Medical Institute (US)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2009-10-20
- Volume
- 133
- Issue
- 1
- Pages
- 23-32
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC2801323
- OpenAlex
- W2154259233
- Cited by
- 445
- References
- 38
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 19 · 2023: 16 · 2022: 17 · 2021: 12 · 2020: 21 · 2019: 18 · 2018: 20 · 2017: 30 · 2016: 23 · 2015: 45 · 2014: 41 · 2013: 50 · 2012: 42
- FWCI
- 23.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Site cant be reached (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Danish Cancer Society Research Center
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung (01GS08120, 01GS08123)
- Fonds De La Recherche Scientifique - FNRS
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (917.66.315)
- Exzellenzclusters Entzündungsforschung
- Vlaamse regering
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD043376, HD043569, K12HD043376, R01HD043569)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- idiopathic generalized epilepsy, 15q11.2, 1q21.1, 16p11.2, 22q11.2, genetic risk, structural variants, epileptogenesis, genetic susceptibility, single nucleotide polymorphism array
- MeSH terms
- Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Epilepsy, Generalized, Female, Humans, Male, Pedigree, Cohort Studies, Genetic Predisposition to Disease, Young Adult
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