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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Seizures, Febrile

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Disease relevance of Seizures, Febrile


Psychiatry related information on Seizures, Febrile


High impact information on Seizures, Febrile

  • We now report a K289M mutation in the GABA(A) receptor gamma2-subunit gene (GABRG2) that segregates in a family with a phenotype closely related to GEFS+ (ref. 8), an autosomal dominant disorder associating febrile seizures and generalized epilepsy previously linked to mutations in sodium channel genes [1].
  • The number of febrile seizures attributable to the administration of DTP and MMR vaccines was estimated to be 6 to 9 and 25 to 34 per 100,000 children, respectively [8].
  • Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B [9].
  • After excluding 16 children who had neurodevelopmental problems before their first febrile convulsion and 1 child whose case was atypical, we studied 381 children, 287 with simple febrile convulsions and 94 with complex febrile convulsions [10].
  • Phenobarbital, once widely prescribed to prevent febrile seizures, is now in disfavor because of its side effects and lack of efficacy [11].

Chemical compound and disease context of Seizures, Febrile


Biological context of Seizures, Febrile


Anatomical context of Seizures, Febrile


Gene context of Seizures, Febrile

  • 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 [25].
  • Additional evidences were brought by the identification of mutations in voltage-dependent sodium channels (SCN1A, SCN1B) in a form of generalized epilepsy with febrile seizures [26].
  • RESULTS: We report the exclusion of the FC trait in our families to FEB1 on 8q13-21 and to a second febrile convulsion locus on 19p13 [20].
  • After experimental febrile seizures (i.e., early in the epileptogenic process), the preserved and augmented inhibition onto principal cells may lead to reduced HCN1 expression [27].
  • Even though a small pedigree could not show clear cosegregation with the disease phenotype, these findings strongly suggest the involvement of Na(v)1.2 in a human disease and propose the R188W [corrected] mutation as the genetic defect responsible for febrile seizures associated with afebrile seizures [28].

Analytical, diagnostic and therapeutic context of Seizures, Febrile


  1. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Baulac, S., Huberfeld, G., Gourfinkel-An, I., Mitropoulou, G., Beranger, A., Prud'homme, J.F., Baulac, M., Brice, A., Bruzzone, R., LeGuern, E. Nat. Genet. (2001) [Pubmed]
  2. National General Practice Study of Epilepsy: newly diagnosed epileptic seizures in a general population. Sander, J.W., Hart, Y.M., Johnson, A.L., Shorvon, S.D. Lancet (1990) [Pubmed]
  3. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Harkin, L.A., Bowser, D.N., Dibbens, L.M., Singh, R., Phillips, F., Wallace, R.H., Richards, M.C., Williams, D.A., Mulley, J.C., Berkovic, S.F., Scheffer, I.E., Petrou, S. Am. J. Hum. Genet. (2002) [Pubmed]
  4. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Rhodes, T.H., Lossin, C., Vanoye, C.G., Wang, D.W., George, A.L. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  5. Childhood-onset epilepsy with and without preceding febrile seizures. Berg, A.T., Shinnar, S., Levy, S.R., Testa, F.M. Neurology (1999) [Pubmed]
  6. Optimum management of febrile seizures in childhood. Knudsen, F.U. Drugs (1988) [Pubmed]
  7. Prolactin and cortisol levels in various paroxysmal disorders in childhood. Zelnik, N., Kahana, L., Rafael, A., Besner, I., Iancu, T.C. Pediatrics (1991) [Pubmed]
  8. The risk of seizures after receipt of whole-cell pertussis or measles, mumps, and rubella vaccine. Barlow, W.E., Davis, R.L., Glasser, J.W., Rhodes, P.H., Thompson, R.S., Mullooly, J.P., Black, S.B., Shinefield, H.R., Ward, J.I., Marcy, S.M., DeStefano, F., Chen, R.T., Immanuel, V., Pearson, J.A., Vadheim, C.M., Rebolledo, V., Christakis, D., Benson, P.J., Lewis, N. N. Engl. J. Med. (2001) [Pubmed]
  9. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Wallace, R.H., Wang, D.W., Singh, R., Scheffer, I.E., George, A.L., Phillips, H.A., Saar, K., Reis, A., Johnson, E.W., Sutherland, G.R., Berkovic, S.F., Mulley, J.C. Nat. Genet. (1998) [Pubmed]
  10. Long-term intellectual and behavioral outcomes of children with febrile convulsions. Verity, C.M., Greenwood, R., Golding, J. N. Engl. J. Med. (1998) [Pubmed]
  11. A controlled trial of diazepam administered during febrile illnesses to prevent recurrence of febrile seizures. Rosman, N.P., Colton, T., Labazzo, J., Gilbert, P.L., Gardella, N.B., Kaye, E.M., Van Bennekom, C., Winter, M.R. N. Engl. J. Med. (1993) [Pubmed]
  12. Diazepam to prevent febrile seizures. Fischbein, C.A., Berg, I.J. N. Engl. J. Med. (1993) [Pubmed]
  13. Placebo-controlled study of phenobarbitone and phenytoin in the prophylaxis of febrile convulsions. Bacon, C.J., Hierons, A.M., Mucklow, J.C., Webb, J.K., Rawlins, M.D., Weightman, D. Lancet (1981) [Pubmed]
  14. Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy. Bowser, D.N., Wagner, D.A., Czajkowski, C., Cromer, B.A., Parker, M.W., Wallace, R.H., Harkin, L.A., Mulley, J.C., Marini, C., Berkovic, S.F., Williams, D.A., Jones, M.V., Petrou, S. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  15. Tumor necrosis factor-alpha, interleukin-1 beta, and interleukin-6 in cerebrospinal fluid from children with prolonged febrile seizures. Comparison with acute encephalitis/encephalopathy. Ichiyama, T., Nishikawa, M., Yoshitomi, T., Hayashi, T., Furukawa, S. Neurology (1998) [Pubmed]
  16. gamma-Aminobutyric acid in CSF of children with febrile seizures. Knight, M., Ebert, J., Parish, R.A., Berry, H., Fogelson, M.H. Arch. Neurol. (1985) [Pubmed]
  17. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. Escayg, A., Heils, A., MacDonald, B.T., Haug, K., Sander, T., Meisler, M.H. Am. J. Hum. Genet. (2001) [Pubmed]
  18. Animal models of epileptogenesis. White, H.S. Neurology (2002) [Pubmed]
  19. Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. Annesi, G., Gambardella, A., Carrideo, S., Incorpora, G., Labate, A., Pasqua, A.A., Civitelli, D., Polizzi, A., Annesi, F., Spadafora, P., Tarantino, P., Cirò Candiano, I.C., Romeo, N., De Marco, E.V., Ventura, P., LePiane, E., Zappia, M., Aguglia, U., Pavone, L., Quattrone, A. Epilepsia (2003) [Pubmed]
  20. Evidence favoring genetic heterogeneity for febrile convulsions. Racacho, L.J., McLachlan, R.S., Ebers, G.C., Maher, J., Bulman, D.E. Epilepsia (2000) [Pubmed]
  21. Genetic epidemiology of epilepsy or what do we tell families? Winawer, M.R., Shinnar, S. Epilepsia (2005) [Pubmed]
  22. Hippocampal atrophy, epilepsy duration, and febrile seizures in patients with partial seizures. Theodore, W.H., Bhatia, S., Hatta, J., Fazilat, S., DeCarli, C., Bookheimer, S.Y., Gaillard, W.D. Neurology (1999) [Pubmed]
  23. Treatment of children with simple febrile seizures: the AAP practice parameter. American Academy of Pediatrics. Baumann, R.J., Duffner, P.K. Pediatric neurology. (2000) [Pubmed]
  24. The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. Kang, J.Q., Kang, J., Macdonald, R.L. J. Neurosci. (2004) [Pubmed]
  25. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Johnson, E.W., Dubovsky, J., Rich, S.S., O'Donovan, C.A., Orr, H.T., Anderson, V.E., Gil-Nagel, A., Ahmann, P., Dokken, C.G., Schneider, D.T., Weber, J.L. Hum. Mol. Genet. (1998) [Pubmed]
  26. Ion channel variation causes epilepsies. Moulard, B., Picard, F., le Hellard, S., Agulhon, C., Weiland, S., Favre, I., Bertrand, S., Malafosse, A., Bertrand, D. Brain Res. Brain Res. Rev. (2001) [Pubmed]
  27. Enhanced expression of a specific hyperpolarization-activated cyclic nucleotide-gated cation channel (HCN) in surviving dentate gyrus granule cells of human and experimental epileptic hippocampus. Bender, R.A., Soleymani, S.V., Brewster, A.L., Nguyen, S.T., Beck, H., Mathern, G.W., Baram, T.Z. J. Neurosci. (2003) [Pubmed]
  28. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Sugawara, T., Tsurubuchi, Y., Agarwala, K.L., Ito, M., Fukuma, G., Mazaki-Miyazaki, E., Nagafuji, H., Noda, M., Imoto, K., Wada, K., Mitsudome, A., Kaneko, S., Montal, M., Nagata, K., Hirose, S., Yamakawa, K. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  29. Cerebrospinal fluid purine metabolites and pyrimidine bases after brief febrile convulsions. Castro-Gago, M., Cid, E., Trabazo, S., Pavón, P., Camiña, F., Rodríguez-Segade, S., Einís Puñal, J., Rodríguez-Nuñez, A. Epilepsia (1995) [Pubmed]
  30. Neuronal migration disorders increase susceptibility to hyperthermia-induced seizures in developing rats. Germano, I.M., Zhang, Y.F., Sperber, E.F., Moshé, S.L. Epilepsia (1996) [Pubmed]
  31. Effective short-term diazepam prophylaxis in febrile convulsions. Knudsen, F.U. J. Pediatr. (1985) [Pubmed]
  32. An epidemiologic study of febrile seizures and epilepsy in children. Doerfer, J., Wässer, S. Epilepsy Res. (1987) [Pubmed]
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