Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the midwest

Febrile convulsions are a common form of childhood seizure. It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic an...

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Veröffentlicht in:Human molecular genetics 1998, Vol.7 (1), p.63-67
Hauptverfasser: JOHNSON, E. W, DUBOVSKY, J, WEBER, J. L, RICH, S. S, O'DONOVAN, C. A, ORR, H. T, ANDERSON, V. E, GIL-NAGEL, A, AHMANN, P, DOKKEN, C. G, SCHNEIDER, D. T
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Sprache:eng
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Zusammenfassung:Febrile convulsions are a common form of childhood seizure. It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic and co-workers recently reported linkage of a putative autosomal dominant febrile convulsion gene to chromosome 8q13-21. We report here another autosomal dominant febrile convulsion locus on chromosome 19p. Linkage analysis in this large multi-generational family gave a maximum pairwise lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the chromosome 8 locus was excluded in this family. Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which we call FEB2 , can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.3, between loci D19S591 and D19S395.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/7.1.63