ArticlePloS one2011
Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Expanding the Phenotypic and Genotypic Spectrum ofFrontiers in molecular neuroscience · 2022Article
- Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABANeurobiology of disease · 2020Article
- Genome-wide identification and analysis of A-to-I RNA editing events in bovine by transcriptome sequencing.PloS one · 2018Article
- Decreased Methylation Level of H3K27me3 Increases Seizure Susceptibility.Molecular neurobiology · 2017Article
- Brain transcriptome atlases: a computational perspective.Brain structure & function · 2017Review
- Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.PloS one · 2014Article
- Identification and characterization of alternative exon usage linked glioblastoma multiforme survival.BMC medical genomics · 2012Article
- Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.PloS one · 2012Article
- The human brain online: an open resource for advancing brain research.PLoS biology · 2012Article
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Authors and funding
4 authors at 2 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Febrile seizures, or febrile convulsions (FEB), represent the most common form of childhood seizures and are believed to be influenced by variations in several susceptibility genes. Most of the associated loci, however, remain 'orphan', i.e. the susceptibility genes they contain still remain to be identified. Further orphan loci have been mapped for a related disorder, genetic (generalized) epilepsy with febrile seizures plus (GEFS+).We show that both spatially mapped and 'traditional' gene expression data from the human brain can be successfully employed to predict the most promising candidate genes for FEB and GEFS+, apply our prediction method to the remaining orphan loci and discuss the validity of the predictions. For several of the orphan FEB/GEFS+ loci we propose excellent, and not always obvious, candidates for mutation screening in order to aid in gaining a better understanding of the genetic origin of the susceptibility to seizures.
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