[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.
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
Bibliography
Mathai KV, Dunn DP, Kurland LT, Reeder FA. Convulsive disorders in the Mariana Islands. Epilepsia 1968;9:77-85
Stanhope JM, Brody JA, Brink E, Morris CE. Convulsions among the Chamorro people of Guam, Mariana islands. II. Febrile convulsions. Am J Epidemiol 1972;95:299-304
Hauser WA, Kurland LT. The epidemiology of epilepsy in Rochester, Minnesota, 1935 through 1967. Epilepsia 1975;16: 1-66
Nelson KB, Ellenberg JH. Predictors of epilepsy in children who have experienced febrile seizures. N Engl J Med 1976;295: 1029-1033
Leviton A, Cowan LD. Epidemiology of seizure disorders in children. Neuroepidemiology 1982;1:40-83
Tsuboi T. Epidemiology of febrile and afebrile convulsions in children in Japan. Neurology 1984;34:175-181
Verity CM, Butler NR, Golding J. Febrile convulsions in a national cohort followed up from birth. I - Prevalence and recurrence in the first five years of life. Br Med J Clin Res Ed 1985; 290:1307-1310
Aicardi J. Epilepsy in children. New York: Raven Press, 1994
Freeman JM. Febrile seizures: a consensus of their significance, evaluation, and treatment. Pediatrics 1980;66:1009-1012
Berg AT, Shinnar S, Hauser WA, et al. A prospective study of recurrent febrile seizures. N Engl J Med 1992;327:1122-1127
Nelson KB, Ellenberg JH. Prognosis in children with febrile seizures. Pediatrics 1978;61:720-727
Annegers JF, Blakley SA, Hauser WA, Kurland LT. Recurrence of febrile convulsions in a population-based cohort. Epilepsy Res 1990;5:209-216
Annegers JF, Hauser WA, Shirts SB, Kurland LT. Factors prognostic of unprovoked seizures after febrile convulsions. N Engl J Med 1987;316:493-498
Tsuboi T, Endo S. Genetic studies of febrile convulsions: analysis of twin and family data. Epilepsy Res Suppl 1991;4:119-128
Lennox-Buchthal M. Febrile and nocturnal convulsions in monozygotic twins. Epilepsia 1971;12:147-156
Schiottz-Christensen E. Genetic factors in febrile convulsions: An investigation of 64 same-sexed twin pairs. Acta Neurol Scand 1972;48:538-546
Anderson VE. Twin studies in epilepsy. In: Beck-Mannagetta G, Anderson VE, Doose H, Janz D, eds. Genetics of the epilepsies. New York: Springer-Verlag, 1989:145-155
Tsuboi T. Genetic analysis of febrile convulsions: twin and family studies. In: Beck-Mannagetta G, Anderson VE, Doose H, Janz D, eds. Genetics of the epilepsies. New York: Springer-Verlag, 1989:25-33
Corey L, Berg K, Pellock J, et al. The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins. Neurology 1991;41:1433-1436
Horstmann W, Schinnerling W. Zur Prognose der sogenannten Fieberkrampfe. Monatsschr Kinderheilkd 1963;111:52-57
Frantzen E, Lennox-Buchthal M, Nygaard A, Stene J. A genetic study of febrile convulsions. Neurology 1970;20:909-917
Van den Berg BJ. Studies on convulsive disorders in young children. IV: Incidence of convulsions among siblings. Dev Med Child Neurol 1974;16:457-464
Rich SS, Annegers JF, Hauser WA, Anderson VE. Complex segregation analysis of febrile convulsions. Am J Hum Genet 1987;41:249-257
Gardiner RM. Genes and epilepsy. J Med Genet 1990;27:537-544
Johnson WG, Kugler SL, Stenroos ES, et al. Pedigree analysis in families with febrile seizures. Am J Med Genet 1996;61: 345-352
Wallace RH, Berkovic SF, Howell RA, et al. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996;33:308-312
Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998;7:63-67
Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 1998;19:366-370
Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992;359:794-801 (Comment)
A collection of ordered tetranucleotide-repeat markers from the human genome: the Utah Marker Development Group. Am J Hum Genet 1995;57:619-628
Broman KW, Murray JC, Sheffield VC, et al. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 1998;63:861-869
Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446
Wallace SJ. The child with febrile seizures. Boston: John Wright, 1988
Kugler SL, Johnson WG. Genetics of the febrile seizure susceptibility trait. Brain Dev 1998;20:265-274
Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30: 389-399
al-Eissa YA. Febrile seizures: rate and risk factors of recurrence. J Child Neurol 1995;10:315-319
Lennox M. Febrile convulsions in childhood; their relationship to adult epilepsy. J Pediatr 1949;35:427-435
Tsuboi T, Endo S. Febrile convulsions followed by nonfebrile convulsions: a clinical, electroencephalographic and follow-up study. Neuropadiatrie 1977;8:209-223
Annegers JF, Hauser WA, Elveback LR, Kurland LT. The risk of epilepsy following febrile convulsions. Neurology 1979;29: 297-303
Fong GC, Shah PU, Gee MN, et al. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. AmJ Hum Genet 1998;63:1117-1129
Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490
Ronen GM, Rosales TO, Connolly M, et al. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 1993;43:1355-1360
Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279: 403-406
Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-55 (Comment)
Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-29 (Comment)
Plummer NW, Meisler MH. Evolution and diversity of mammalian sodium channel genes. Genomics 1999;57:323-331
Zara F, Labuda M, Garofalo PG, et al. Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy [published erratum appears in Neurology 1998;51: 1520]. Neurology 1998;51:493-498
Liu AW, Delgado-Escueta AV, Serratosa JM, et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995;57:368-381
Poza JJ, Saenz A, Martinez-Gil A, et al. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol 1999; 45:182-188
Elmslie FV, Rees M, Williamson MP, et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 1997;6:1329-1334
Neubauer BA, Fiedler B, Himmelein B, et al. Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 1998;51:1608-1612
Phillips HA, Scheffer IE, Berkovic SF, et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 1995;10:117-118 (Letter)
Guerrini R, Bonanni P, Nardocci N, et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999;45:344-352
Szepetowski P, Rochette J, Berquin P, et al. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889-898
Guipponi M, Rivier F, Vigevano F, et al. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997;6:473-477
Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-203
Pennacchio LA, Lehesjoki AE, Stone NE, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996;271:1731-1734 (Comment)
Sander T, Hildmann T, Kretz R, et al. Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. Am J Med Genet 1997;74:416-421
This website uses cookies to improve user experience. Read more
Save & Close
Accept all
Decline all
Show detailsHide details
Cookie declaration
About cookies
Strictly necessary
Performance
Strictly necessary cookies allow core website functionality such as user login and account management. The website cannot be used properly without strictly necessary cookies.
This cookie is used by Cookie-Script.com service to remember visitor cookie consent preferences. It is necessary for Cookie-Script.com cookie banner to work properly.
Performance cookies are used to see how visitors use the website, eg. analytics cookies. Those cookies cannot be used to directly identify a certain visitor.
Used to store the attribution information, the referrer initially used to visit the website
Cookies are small text files that are placed on your computer by websites that you visit. Websites use cookies to help users navigate efficiently and perform certain functions. Cookies that are required for the website to operate properly are allowed to be set without your permission. All other cookies need to be approved before they can be set in the browser.
You can change your consent to cookie usage at any time on our Privacy Policy page.
