Zusammenfassung
Genetischen Faktoren kommt bei Fieberkrämpfen eine wichtige Rolle zu. In den letzten Jahren sind verschiedene monogene Epilepsien, bei welchen Fieberkrämpfe einen wichtigen Teil des klinischen Spektrums darstellen, genetisch näher charakterisiert worden. Hierzu gehören die generalisierte Epilepsie mit febrilen Anfällen plus (GEFS+) ebenso wie das Dravet-Syndrom. Auch bei den Temporallappenepilepsien wird ein genetischer Zusammenhang mit dem vorherigen Auftreten von Fieberkrämpfen diskutiert. Der weit überwiegende Teil der Fieberkrämpfe entsteht jedoch nicht aufgrund einer monogenen Ursache, sondern durch verschiedene, ungünstige genetische Faktoren in Kombination mit nichtgenetischen Einflüssen.
Abstract
Genetic factors play an important role in the etiology of febrile seizures. In recent years, genes have been identified for several monogenic epilepsies in which febrile seizures are part of the clinical phenotype. Examples of epilepsies in which syndromic febrile seizures occur are generalized epilepsy with febrile seizures plus (GEFS+) and the Dravet syndrome. In temporal lobe epilepsy a genetic association between a history of febrile seizures and epilepsy is also being discussed. However, most febrile seizures have a polygenic not a monogenic background and are caused by a combination of several different genetic factors with non-genetic causes.
Literatur
Audenaert D, Van Broeckhoven C, De Jonghe P (2006) Genes and loci involved in febrile seizures and related epilepsy syndromes. Hum Mutat 27: 391–401
Baulac S, Gourfinkel-An I, Nabbout R et al. (2003) Fever, genes, and epilepsy. Lancet Neurol 3: 421–430
Berg AT, Shinnar S (1996) Unprovoked seizures in children with febrile seizures: short-term outcome. Neurology 47: 562–568
Biervert C, Schroeder BC, Kubisch C et al. (1998) A potassium channel mutation in neonatal human epilepsy. Science 279: 403–406
Caraballo RH, Fejerman N (2006) Dravet syndrome: a study of 53 patients. Epilepsy Res [Suppl 1] 70: S231–238
Claes L, Ceulemans B, Audenaert D et al. (2003) De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 21: 615–621
Depondt C, Van Paesschen W, Matthijs G et al. (2002) Familial temporal lobe epilepsy with febrile seizures. Neurology 58: 1429–1433
Des Portes V, Pinard JM, Billuart P et al. (1998) A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92: 51–61
Fernandez G, Effenberger O, Vinz B et al. (2001) Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. Neurology 57: S13–21
Harkin LA, Bowser DN, Dibbens LM et al. (2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 70: 530–536
Hauser WA, Annegers JF, Rocca WA (1996) Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota. Mayo Clin Proc 71: 576–586
Hirose S, Mohney RP, Okada M et al. (2003) The genetics of febrile seizures and related epilepsy syndromes. Brain Dev 25: 304–312
Ito M, Yamakawa K, Sugawara T et al. (2006) Phenotypes and genotypes in epilepsy with febrile seizures plus. Epilepsy Res [Suppl 1] 70: S199–205
Johnson WG, Kugler SL, Stenroos ES et al. (1996) Pedigree analysis in families with febrile seizures. Am J Med Genet 61: 345–352
Kalachikov S, Evgrafov O, Ross B et al. (2002) Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 30: 335–341
Kanemoto K, Kawasaki J, Miyamoto T et al. (2000) Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy. Ann Neurol 47: 571–574
Kang JQ, Shen W, Macdonald RL (2006) Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. J Neurosci 26: 2590–2597
Madia F, Gennaro E, Cecconi M et al. (2003) No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. Epilepsy Res 53: 196–200
Mulley JC, Scheffer IE, Petrou S et al. (2005) SCN1A mutations and epilepsy. Hum Mutat 25: 535–542
Nakayama J, Arinami T (2006) Molecular genetics of febrile seizures. Epilepsy Res [Suppl 1] 70: S190–198
Reiner O, Carrozzo R, Shen Y et al. (1993) Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364: 717–721
Steinlein OK (2004) Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci 5: 400–408
Steinlein OK, Mulley JC, Propping P et al. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11: 201–203
Stogmann E, Zimprich A, Baumgartner C et al. (2002) A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy. Ann Neurol 51: 260–263
Tsuboi T (1984) Epidemiology of febrile and afebrile convulsions in children in Japan. Neurology 34: 175–181
Tsuboi T, Endo S (1991) Genetic studies of febrile convulsions: analysis of twin and family data. Epilepsy Res Suppl 4: 119–128
Verity CM, Golding J (1991) Risk of epilepsy after febrile convulsions: a national cohort study. BMJ 303: 1373–1376
Wallace RH, Marini C, Petrou S et al. (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28: 49–52
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Steinlein, O. Genetische Ursachen von Fieberkrämpfen. Monatsschr Kinderheilkd 155, 431–436 (2007). https://doi.org/10.1007/s00112-007-1509-6
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DOI: https://doi.org/10.1007/s00112-007-1509-6