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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- Source :
- 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 2009, ' 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy ', Nature Genetics, vol. 41, pp. 160-162 . https://doi.org/10.1038/ng.292, Nature Genetics, Vol. 41, No 2 (2009) pp. 160-162
- Publication Year :
- 2009
- Publisher :
- Springer Science and Business Media LLC, 2009.
-
Abstract
- 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.
- Subjects :
- Adult
Male
Pediatrics
medicine.medical_specialty
Adolescent
alpha7 Nicotinic Acetylcholine Receptor
Receptors, Nicotinic
Article
Idiopathic generalized epilepsy
ddc:616.89
Young Adult
Epilepsy
Epilepsy, Generalized/*genetics
Receptors, Nicotinic/genetics
Risk Factors
Internal medicine
Intellectual disability
Genetics
medicine
Humans
ddc:576.5
Genetic Predisposition to Disease
Risk factor
Child
Chromosomes, Human, Pair 15
Comparative Genomic Hybridization
biology
CHRNA7
Case-control study
Chromosome Deletion
medicine.disease
Endocrinology
Schizophrenia
Case-Control Studies
Child, Preschool
biology.protein
Autism
Epilepsy, Generalized
Female
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 41
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....d16608f5fa73aaa673df14caf6df6e92