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Article (Scientific journals)
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24.
Peiffer, A.; Thompson, J.; Charlier, Carole et al.
1999In Annals of Neurology, 46 (4), p. 671-8
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Keywords :
Chromosome Mapping; Chromosomes, Human, Pair 2/genetics; Genetic Linkage/genetics; Genotype; Humans; Pedigree; Phenotype; Seizures, Febrile/genetics
Abstract :
[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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Peiffer, A.
Thompson, J.
Charlier, Carole  
Otterud, B.
Varvil, T.
Pappas, C.
Barnitz, C.
Gruenthal, K.
Kuhn, R.
Leppert, M.
Language :
English
Title :
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24.
Publication date :
1999
Journal title :
Annals of Neurology
ISSN :
0364-5134
eISSN :
1531-8249
Publisher :
Wiley Liss, Inc., New York, United States - New York
Volume :
46
Issue :
4
Pages :
671-8
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 09 November 2011

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