title: Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
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.
authors.affiliation: Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy. r.piro@dkfz.de
authors.forename: Rosario M
authors.initials: RM
authors.lastname: Piro
authors.forename: Ivan
authors.initials: I
authors.lastname: Molineris
authors.forename: Ugo
authors.initials: U
authors.lastname: Ala
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Di Cunto
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000473:pathology; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000235:genetics*; D020869:Gene Expression Profiling / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D015203:Reproducibility of Results; D003294:Seizures, Febrile / Q000175:diagnosis / Q000235:genetics*; D012680:Sensitivity and Specificity