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 mailto [> > > >]
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
Yes (verified by ORBi)
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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