15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
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We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.
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Rare CNVs at 1q21.1 and 15q13.2-13.3 have been reported in developmental and neuropsychiatric syndromes, and deletions there occur in ASD, schizophrenia, and idiopathic epilepsy.
“rare 1q21.1 and 15q13.2-13.3 CNVs have been identified in developmental and neuropsychiatric syndromes, with deletions found in ASD (Miller et al., 2009; Shen et al., 2010), schizophrenia (ISC, 2008; Stefansson et al., 2008), idiopathic epilepsy (Helbig et al., 2009)”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Helbig et al., 2009
These CHRNA7 duplications are considered of uncertain clinical significance because they were previously detected at similar frequencies in patients with epilepsy, controls, and subjects referred for chromosomal microarray analysis.
“These duplications are considered of uncertain clinical significance since they were previously detected at similar frequencies in patients with epilepsy (6 of 647, 0.93%), in controls (19 of 3699, 0.51%) [50], and in subjects referred for chromosomal microarray analysis (55 of 8832, 0.62%) [51].”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [50]
Larger 15q13.3 deletions (~1.5 Mb) between BP4 and BP5, encompassing the CHRNA7 locus, have been associated with ID, epilepsy, schizophrenia, and ASD.
“In contrast, larger 15q13.3 deletions (∼1.5 Mb) between BP4 and BP5, encompassing the CHRNA7 locus have been associated with disorders such as ID, epilepsy, schizophrenia, and ASD [43], [46]–[48], [50], [52]–[54], [57]–[59].”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [50]
Recurrent CNVs initially observed in ID or ASD are also found in adults with epilepsy, bipolar disorder, or schizophrenia, suggesting genetic overlap among these disorders.
“many of these same recurrent CNVs observed initially in patients with ID [15] or ASD [16] have been identified in adults with epilepsy [17], bipolar disorder [18], or schizophrenia [19,20], suggesting overlap in the genetic etiology of these disorders.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [17]
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- Authors
- Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., Kron, K. L., Steinich, I., Kleefuß-Lie, A. A., Leu, C., Gaus, V., Schmitz, B., Klein, K. M., Reif, P. S., Rosenow, F., Weber, Y., Lerche, H., Zimprich, F., Urak, L., Fuchs, K., Feucht, M., Genton, P., Thomas, P., Visscher, F., de Haan, G.-J., Møller, R. S., Hjalgrim, H., Luciano, D., Wittig, M., Nothnagel, M., Elger, C. E., Nürnberg, P., Romano, C., Malafosse, A., Koeleman, B. P. C., Lindhout, D., Stephani, U., Schreiber, S., Eichler, E. E., & Sander, T.
- Affiliations
- University Hospital Schleswig-Holstein (DE)
- University of Washington (US)
- University of Geneva (CH)
- I.R.C.C.S. Oasi Maria SS (IT)
- Henri Gastaut Hospital (FR)
- Hôpital Pasteur (FR)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Sander, Thomas
- ORCID
- Mefford, Heather C
- Sharp, Andrew J
- Guipponi, Michel
- Fichera, Marco
- Leu, Costin
- Gaus, Verena
- Schmitz, Bettina
- Klein, Karl M
- Reif, Philipp S
- Rosenow, Felix
- Weber, Yvonne
- Lerche, Holger
- Zimprich, Fritz
- Feucht, Martha
- Genton, Pierre
- Visscher, Frank
- Møller, Rikke S
- Hjalgrim, Helle
- Wittig, Michael
- Nothnagel, Michael
- Elger, Christian E
- Nürnberg, Peter
- Romano, Corrado
- Koeleman, Bobby P C
- Lindhout, Dick
- Stephani, Ulrich
- Schreiber, Stefan
- Eichler, Evan E
- Venue
- Nature Genetics
- Published
- 2009-01-11
- Volume
- 41
- Issue
- 2
- Pages
- 160-162
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3026630
- OpenAlex
- W2075183590
- Cited by
- 551
- References
- 13
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 14 · 2023: 13 · 2022: 19 · 2021: 11 · 2020: 21 · 2019: 24 · 2018: 19 · 2017: 29 · 2016: 21 · 2015: 40 · 2014: 46 · 2013: 57 · 2012: 58
- FWCI
- 45.76
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (publishedVersion)
- PubMed Central (acceptedVersion)
- MDC Repository (Max-Delbrueck-Center for Molecular Medicine) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD043569, R01HD043569)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- idiopathic generalized epilepsy, CHRNA7, genetic risk factors, phenotypic spectrum, intellectual disability, schizophrenia, autism spectrum disorder, epilepsy syndromes
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Epilepsy, Generalized, Female, Humans, Male, Receptors, Nicotinic, Risk Factors, Case-Control Studies, Genetic Predisposition to Disease, Comparative Genomic Hybridization, Young Adult, alpha7 Nicotinic Acetylcholine Receptor
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