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- Title
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24.
- Authors
Peiffer, Andy; Thompson, Joel; Charlier, Carole; Otterud, Brith; Varvil, Tena; Pappas, Chris; Barnitz, Craig; Gruenthal, Kristen; Kuhn, Renée; Leppert, Mark; Peiffer, A; Thompson, J; Charlier, C; Otterud, B; Varvil, T; Pappas, C; Barnitz, C; Gruenthal, K; Kuhn, R; Leppert, M
- 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.
- Publication
Annals of Neurology, 1999, Vol 46, Issue 4, p671
- ISSN
0364-5134
- Publication type
journal article
- DOI
10.1002/1531-8249(199910)46:4<671::AID-ANA20>3.0.CO;2-5