ArticleGenome medicine2010
Genetically complex epilepsies, copy number variants and syndrome constellations.
Article in Genome medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
- Article
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.Brain : a journal of neurology · 2020Article
- Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.European journal of human genetics : EJHG · 2016Article
- Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.PLoS genetics · 2015Article
- A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.BMC medical genetics · 2014Article
- CNVs in Epilepsy.Current genetic medicine reports · 2014Review
- Imaging and genetics of language and cognition in pediatric epilepsy.Epilepsy & behavior : E&B · 2013Review
- Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.American journal of human genetics · 2012Article
- Epi4K: gene discovery in 4,000 genomes.Epilepsia · 2012Article
- Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2011Article
- Epilepsy and autism: neurodevelopmental perspective.Current neurology and neuroscience reports · 2011Review
- Epilepsy and the new cytogenetics.Epilepsia · 2011Review
- Genetic variations and associated pathophysiology in the management of epilepsy.The application of clinical genetics · 2011Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epilepsy is one of the most common neurological disorders, with a prevalence of 1% and lifetime incidence of 3%. There are numerous epilepsy syndromes, most of which are considered to be genetic epilepsies. Despite the discovery of more than 20 genes for epilepsy to date, much of the genetic contribution to epilepsy is not yet known. Copy number variants have been established as an important source of mutation in other complex brain disorders, including intellectual disability, autism and schizophrenia. Recent advances in technology now facilitate genome-wide searches for copy number variants and are beginning to be applied to epilepsy. Here, we discuss what is currently known about the contribution of copy number variants to epilepsy, and how that knowledge is redefining classification of clinical and genetic syndromes.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.