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Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
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Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal dominant and severe sporadic forms of epilepsy, but the genetic cause is unknown in the vast majority of cases. Copy number variants (CNVs) are known to play an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID), autism, and schizophrenia. Genome-wide studies of copy number variation in epilepsy have not been performed. We have applied whole-genome oligonucleotide array comparative genomic hybridization to a cohort of 517 individuals with various idiopathic, non-lesional epilepsies. We detected one or more rare genic CNVs in 8.9% of affected individuals that are not present in 2,493 controls; five individuals had two rare CNVs. We identified CNVs in genes previously implicated in other neurodevelopmental disorders, including two deletions in AUTS2 and one deletion in CNTNAP2. Therefore, our findings indicate that rare CNVs are likely to contribute to a broad range of generalized and focal epilepsies. In addition, we find that 2.9% of patients carry deletions at 15q11.2, 15q13.3, or 16p13.11, genomic hotspots previously associated with ID, autism, or schizophrenia. In summary, our findings suggest common etiological factors for seemingly diverse diseases such as ID, autism, schizophrenia, and epilepsy.
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“More directly, rare variation in CNTNAP2, including CNVs, other structural disruptions and deleterious sequence variation, has been identified in subjects with autism, epilepsy, intellectual disability, Pitt-Hopkins-like syndrome, schizophrenia and Tourette syndrome (42–48), albeit with differing degrees of evidence for effect on these traits.”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [45]
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Genetic Epidemiology and Gene Discovery in Epilepsy
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Clinical utility gene card for: 15q13.3 microdeletion syndrome
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Metadata
- Authors
- Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., Gurnett, C. A., Schreiber, S., Bassuk, A. G., Guipponi, M., Stephani, U., Helbig, I., & Eichler, E. E.
- Affiliations
- University of Washington (US)
- Christian-Albrechts-Universität zu Kiel (DE)
- Ghent University Hospital (BE)
- University of Geneva (CH)
- Henri Gastaut Hospital (FR)
- Hôpital Pasteur (FR)
- Washington University in St. Louis (US)
- University of Iowa (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Mefford, Heather C.
- ORCID
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2010-05-20
- Volume
- 6
- Issue
- 5
- Pages
- e1000962
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC2873910
- OpenAlex
- W2003479128
- Cited by
- 474
- References
- 61
- Citations by year
- 2026: 8 · 2025: 6 · 2024: 17 · 2023: 7 · 2022: 20 · 2021: 33 · 2020: 21 · 2019: 21 · 2018: 16 · 2017: 28 · 2016: 22 · 2015: 48 · 2014: 45 · 2013: 61 · 2012: 51
- FWCI
- 32.35
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (acceptedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Radboud Repository (Radboud University) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- Howard Hughes Medical Institute
- Burroughs Wellcome Fund
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (R01NS064159, NS064159)
- 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
- copy number variation, epilepsy, idiopathic generalized epilepsy, focal epilepsy, AUTS2, CNTNAP2, 15q11.2, 15q13.3, neurodevelopmental disorders, intellectual disability, autism spectrum disorder, schizophrenia
- MeSH terms
- Epilepsy, Humans, Genetic Variation, Genome, Gene Dosage, Genetic Predisposition to Disease
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