title: A locus for febrile seizures (FEB3) maps to chromosome 2q23-24.
abstract: Febrile seizures are the most common form of childhood seizures, occurring in 2% to 5% of North American children. We report a large Utah family with 21 members affected by febrile seizures inherited as an autosomal dominant trait. All had generalized tonic-clonic seizures with onset associated with fever, consistent with the consensus febrile seizure phenotype, and none had febrile seizures beyond 6 years of age. Eighteen affected individuals had recurrent febrile seizures. Eight individuals developed afebrile seizures between ages 5 and 13 years. Afebrile seizures consisted of generalized tonic-clonic, generalized tonic, generalized atonic, simple partial, and partial complex seizure types and were associated with abnormal electroencephalographic findings in 5 individuals, all of whom were intellectually normal. We undertook linkage analysis in this family, defining the disease phenotype as febrile seizures alone. Linkage analysis in epilepsy candidate gene/loci regions failed to show evidence for linkage to febrile seizures. However, a genomewide scan and subsequent fine mapping revealed significant evidence for a new febrile seizure locus (FEB3) on chromosome 2q23-24 with linkage to the marker D2S2330 (LOD score 8.08 at theta = 0.001). Haplotype analysis defined a critical 10-cM region between markers D2S141 and D2S2345 that contains the FEB3 locus.
authors.affiliation: Department of Human Genetics, University of Utah, Salt Lake City 84112-5330, USA.
authors.forename: A
authors.initials: A
authors.lastname: Peiffer
authors.forename: J
authors.initials: J
authors.lastname: Thompson
authors.forename: C
authors.initials: C
authors.lastname: Charlier
authors.forename: B
authors.initials: B
authors.lastname: Otterud
authors.forename: T
authors.initials: T
authors.lastname: Varvil
authors.forename: C
authors.initials: C
authors.lastname: Pappas
authors.forename: C
authors.initials: C
authors.lastname: Barnitz
authors.forename: K
authors.initials: K
authors.lastname: Gruenthal
authors.forename: R
authors.initials: R
authors.lastname: Kuhn
authors.forename: M
authors.initials: M
authors.lastname: Leppert
mesh_terms: D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D003294:Seizures, Febrile / Q000235:genetics*