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| Reference : A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. |
| Scientific journals : Article | |||
| Life sciences : Genetics & genetic processes | |||
| http://hdl.handle.net/2268/102181 | |||
| A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. | |
| English | |
| Peiffer, A. [> > > >] | |
| Thompson, J. [> > > >] | |
Charlier, Carole  [> > > >] | |
| Otterud, B. [> > > >] | |
| Varvil, T. [> > > >] | |
| Pappas, C. [> > > >] | |
| Barnitz, C. [> > > >] | |
| Gruenthal, K. [> > > >] | |
| Kuhn, R. [> > > >] | |
| Leppert, M. [ > > ] | |
| 1999 | |
| Annals of Neurology | |
| Wiley Liss, Inc. | |
| 46 | |
| 4 | |
| 671-8 | |
| International | |
| 0364-5134 | |
| 1531-8249 | |
| New York | |
| NY | |
| [en] Chromosome Mapping ; Chromosomes, Human, Pair 2/genetics ; Genetic Linkage/genetics ; Genotype ; Humans ; Pedigree ; Phenotype ; Seizures, Febrile/genetics | |
| [en] 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. | |
| http://hdl.handle.net/2268/102181 |
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