| Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. | |
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MedLine Citation:
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PMID: 8730286 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Febrile convulsions affect 2 to 5% of all children under the age of 5 years. These convulsions probably have a variety of causes, but a genetic component has long been recognised. A large and remarkable family is described in which febrile convulsions appear to result from autosomal dominant inheritance at a single major locus. A gene for febrile convulsions was excluded from regions of previously mapped epilepsy genes and extension of exclusion mapping, using microsatellite markers, to the entire genome implied that a locus on chromosome 8q13-21 may be involved. Linkage analysis of markers on chromosome 8 gave a multipoint lod score of 3.40, maximised over different values of penetrance and phenocopy rate, for linkage between the gene for febrile convulsions and the region flanked by markers D8S553 and D8S279. This lod score was calculated assuming the disease has a penetrance of 60% and a phenocopy rate of 3%. Although there was no indication of linkage other than to markers on chromosome 8, linkage remains suggestive rather than significant because of the maximisation procedure applied. The support for linkage involving a major gene, as opposed to an alternative hypothesis of a complex inheritance pattern, relied upon the assumption of low penetrance. |
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Authors:
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R H Wallace; S F Berkovic; R A Howell; G R Sutherland; J C Mulley |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of medical genetics Volume: 33 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1996 Apr |
Date Detail:
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Created Date: 1996-09-25 Completed Date: 1996-09-25 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 308-12 Citation Subset: IM |
Affiliation:
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Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 8* Female Genetic Markers / genetics Genotype Humans Infant Linkage (Genetics) Male Middle Aged Pedigree Seizures, Febrile / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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