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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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Self-citationNDE1 and NDEL1: twin neurodevelopmental proteins with similar ‘nature’ but different ‘nurture’
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Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait
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22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy
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NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy
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“…et al. [2009], Kirov et al. [2012], Magri et al. [2010], Need et al. [2009], Stefansson et al. [2008] Epilepsy, learning disability, developmental delay, dysmorphic features, autism, ADHD, obsessive–compulsive disorder [Doornbos et al., 2009; Mefford et al., 2009; de Kovel et al., 2010] 15q13.”
BackgroundProgress in unraveling the genetic etiology of rolandic epilepsy
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“3 microdeletion to give a linkage signal? Subsequent studies investigated the role of other large CNVs that had previously been associated with increased risk of ID, autism and schizophrenia [53].”
BackgroundSelf-citationA Systems Biology Approach for Personalized Medicine in Refractory Epilepsy
Naimo, G. D., Guarnaccia, M., Sprovieri, T., Ungaro, C., Conforti, F. L., Andò, S., & Cavallaro, S. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20153717 · Cited by 39
NIPA1mutation in complex hereditary spastic paraplegia with epilepsy
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“2 including NIPA1 have been identified in patients with IGE.”
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Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy
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“11 have also repeatedly been shown in patients with JME, but at a lower frequency: together these three ‘hot spot’ CNVs are seen in an estimated 3% of patients with JME [74,75].”
BackgroundAnalysis of rare copy number variation in absence epilepsies
Addis, L., Rosch, R. E., Valentı́n, A., MAKOFF, A. J., Robinson, R. A., Everett, K. V., Nashef, L. A. M., & Pal, D. K. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000056 · Cited by 37
Gain-of-functionHCN2variants in genetic epilepsy
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GRIN2A Variants Associated With Idiopathic Generalized Epilepsies
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“11 (de Kovel et al., 2010; Kirov et al., 2013; Møller et al., 2013; Jähn et al., 2014; Rezazadeh et al., 2017).”
The Genetics of the Epilepsies
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Pharmacoresponse in Genetic Generalized Epilepsy: A Genome-Wide Association Study
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Self-citationGenetic mutations associated with status epilepticus
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“6 Mb overlapping this region, and extending more distally, have been found in patients with DD/MCA and epilepsy (26, 27).”
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“2 have been associated with both epilepsy and ASD, however the relative risk that this CNV confers to ASD is low [70,83,84].”
BackgroundCopy Number Variations in Patients With Electrical Status Epilepticus in Sleep
Kevelam, S. H., Jansen, F. E., van Binsbergen, E., Braun, K. P. J., Verbeek, N. E., Lindhout, D., Poot, M., & Brilstra, E. H. (2011) · Journal of Child Neurology · doi:10.1177/0883073811416006 · Cited by 31
“3 losses has been demonstrated in patients with idiopathic generalized epilepsy.(8,9,10) Second, the 15q13.”
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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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