{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T12:33:56Z","timestamp":1774355636478,"version":"3.50.1"},"reference-count":14,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,4]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.33.4.308","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"308-312","source":"Crossref","is-referenced-by-count":157,"title":["Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21."],"prefix":"10.1136","volume":"33","author":[{"given":"R H","family":"Wallace","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S F","family":"Berkovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R A","family":"Howell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G R","family":"Sutherland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J C","family":"Mulley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1542\/peds.66.6.1009a","article-title":"Consensus Development Panel. Febrile seizures: long term management of children with fever associated seizures","volume":"66","year":"1980","unstructured":"Consensus Development Panel. Febrile seizures: long term management of children with fever associated seizures. Pediatrics 1980;66: 1009-12.","journal-title":"Pediatrics"},{"key":"ref_2","first-page":"45","article-title":"Febrile convulsions","volume-title":"Epileptic syndromes in infancy, childhood and adolescence","author":"O'Donohoe, N.V.","year":"1992","unstructured":"O'Donohoe NV. Febrile convulsions. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London: John Libby Eurotext Ltd, 1992:45-52.","edition":"2nd ed"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1111\/j.1528-1157.1992.tb01760.x","article-title":"Validation of a questionnaire for clinical seizure diagnosis","volume":"33","author":"Reutens, D.C.; Howell, R.A.; Gebert, K.E.; Berkovic, S.F.","year":"1992","unstructured":"Reutens DC, Howell RA, Gebert KE, Berkovic SF. Validation of a questionnaire for clinical seizure diagnosis. Epilepsia 1992;33: 1065-71.","journal-title":"Epilepsia"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/ng0595-4","article-title":"Partial epilepsy: chinks in the armour","volume":"10","author":"Ryan, S.G.","year":"1995","unstructured":"Ryan SG. Partial epilepsy: chinks in the armour. Nature Genet 1995;10:4-6.","journal-title":"Nature Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0694supp-246","article-title":"The 1993-4 Genethon human genetic linkage map","volume":"7","author":"Gyapay, G.; Morisette, J.; Dib, C.","year":"1994","unstructured":"Gyapay G, Morisette J, Dib C, et al. The 1993-4 Genethon human genetic linkage map. Nature Genet 1994;7:246-339.","journal-title":"Nature Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/ng0595-117","article-title":"Localisation of autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2","volume":"10","author":"Phillips, H.A.; Scheffer, I.E.; Berkovic, S.F.","year":"1995","unstructured":"Phillips HA, Scheffer IE, Berkovic SF, et al. Localisation of autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2. Nature Genet 1995;10:117-18.","journal-title":"Nature Genet"},{"key":"ref_7","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop, G.M.; Lalouel, J.M.","year":"1984","unstructured":"Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am Y Hum Genet 1984;36:460-5.","journal-title":"Am Y Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1136\/jmg.24.9.539","article-title":"Exclusion mapping","volume":"24","author":"Edwards, J.H.","year":"1987","unstructured":"Edwards JH. Exclusion mapping. Y Med Genet 1987;24: 539-43.","journal-title":"Y Med Genet"},{"key":"ref_9","first-page":"3443","article-title":"Strategies for multilocus linkage","volume-title":"analysis in humans. Proc Natl Acad Sci USA","volume":"81","author":"Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1984","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6."},{"key":"ref_10","first-page":"249","article-title":"Complex segregation analysis of febrile convulsions","volume":"41","author":"Rich, S.S.; Annegers, J.F.; Hauser, W.A.; Anderson, V.E.","year":"1987","unstructured":"Rich SS, Annegers JF, Hauser WA, Anderson VE. Complex segregation analysis of febrile convulsions. Am Y Hum Genet 1987;41:249-57.","journal-title":"Am Y Hum Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/ng0495-347","article-title":"Positional cloning moves from perditional to traditional","volume":"9","author":"Collins, F.S.","year":"1995","unstructured":"Collins FS. Positional cloning moves from perditional to traditional. Nature Genet 1995;9:347-50.","journal-title":"Nature Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1159\/000132525","article-title":"Human corticotropin releasing hormone gene is located on the long arm of chromosome 8","volume":"47","author":"Arbiser, J.L.; Morton, C.C.; Bruns, G.A.P.; Majzoub, J.A.","year":"1988","unstructured":"Arbiser JL, Morton CC, Bruns GAP, Majzoub JA. Human corticotropin releasing hormone gene is located on the long arm of chromosome 8. Cytogenet Cell Genet 1988;47: 113-16.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1006\/geno.1993.1462","article-title":"Structure and localisation of the gene encoding human peripheral myelin protein 2 (PMP2)","volume":"18","author":"Hayasaka, K.; Himoro, M.; Takada, G.","year":"1993","unstructured":"Hayasaka K, Himoro M, Takada G, et al. Structure and localisation of the gene encoding human peripheral myelin protein 2 (PMP2). Genomics 1993;18:244-8.","journal-title":"Genomics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng1095-201","article-title":"A missense mutation in the neuronal nicotinic acetylcholine receptor a4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy","volume":"11","author":"Steinlein, O.K.; Mulley, J.C.; Propping, P.","year":"1995","unstructured":"Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor a4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet 1995;11:201-3.","journal-title":"Nature Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.4.308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:50:07Z","timestamp":1759722607000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.4.308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,4]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1996,4,1]]},"published-print":{"date-parts":[[1996,4]]}},"alternative-id":["10.1136\/jmg.33.4.308"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.4.308","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,4]]}}}