15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Copyright policy )15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
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.
- Charité - University Medicine Berlin Germany
- University of Copenhagen Denmark
- University of Copenhagen Denmark
- University of Bonn Germany
- University of Geneva Switzerland
576.5, Adult, Male, Adolescent, alpha7 Nicotinic Acetylcholine Receptor, Receptors, Nicotinic, Nicotinic, Chromosomes, Young Adult, Epilepsy, Generalized/*genetics, Receptors, Nicotinic/genetics, Risk Factors, Receptors, Humans, Genetic Predisposition to Disease, Preschool, Child, *Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, Epilepsy, Generalized, Pair 15, *Chromosome Deletion, *Genetic Predisposition to Disease, 616.89, Case-Control Studies, Child, Preschool, Epilepsy, Generalized, Female, Chromosome Deletion, Human, ddc: ddc:616.89, ddc: ddc:576.5
576.5, Adult, Male, Adolescent, alpha7 Nicotinic Acetylcholine Receptor, Receptors, Nicotinic, Nicotinic, Chromosomes, Young Adult, Epilepsy, Generalized/*genetics, Receptors, Nicotinic/genetics, Risk Factors, Receptors, Humans, Genetic Predisposition to Disease, Preschool, Child, *Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, Epilepsy, Generalized, Pair 15, *Chromosome Deletion, *Genetic Predisposition to Disease, 616.89, Case-Control Studies, Child, Preschool, Epilepsy, Generalized, Female, Chromosome Deletion, Human, ddc: ddc:616.89, ddc: ddc:576.5
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).517 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 1% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 1% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 0.1%
Citations provided by BIP!Popularity provided by BIP!