Disease relevance of Seizures, Febrile

• Generalized epilepsy with febrile seizures plus (GEFS+), benign familial neonatal convulsions and nocturnal frontal lobe epilepsy, three autosomal dominant idiopathic epilepsies, result from mutations affecting voltage-gated sodium and potassium channels, and nicotinic acetylcholine receptors, respectively [1].
• Of the remaining 1091 patients, 220 (20% [95% confidence interval 18-23%]) had febrile seizures, 564 (52% [49-55%]) definite epileptic seizures, and 228 (21% [19-23%]) possible epilepsy [2].
• Here we describe a family that has generalized epilepsy with febrile seizures plus (GEFS(+)), including an individual with severe myoclonic epilepsy of infancy, in whom a third GABA(A)-receptor gamma2-subunit mutation was found [3].
• Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (SMEI) [4].
• Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have childhood absence epilepsy and absence seizures compared with children without febrile seizures [5].

Psychiatry related information on Seizures, Febrile

• There is very little risk of neurological deficit, epilepsy, mental retardation, or altered behaviour as sequelae to febrile seizures [6].
• Cortisol secretion appears to be nonselectively triggered by all stressful events, such as epileptic and febrile seizures, and fever [7].

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

• Diazepam to prevent febrile seizures [12].
• Of 138 children who had a first febrile convulsion before their second birthday, 48 were treated with phenobarbitone, 47 with phenytoin, and 43 with a placebo for 12 months [13].
• We have investigated the functional consequences of an arginine-to-glutamine mutation at position 43 within the GABA(A) gamma(2)-subunit found in a family with childhood absence epilepsy and febrile seizures [14].
• Tumor necrosis factor-alpha, interleukin-1 beta, and interleukin-6 in cerebrospinal fluid from children with prolonged febrile seizures. Comparison with acute encephalitis/encephalopathy [15].
• gamma-Aminobutyric acid in CSF of children with febrile seizures [16].

Biological context of Seizures, Febrile

• We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2 [17].
• Advances in our understanding of the molecular biology of human epileptogenesis and secondary hyperexcitability have resulted in part from the development and characterization of animal models of mesial temporal lobe epilepsy, trauma-induced epilepsy, and age-specific models of febrile seizures and neonatal hypoxia-induced seizures [18].
• Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus [19].
• METHODS: Members of the two families were genotyped with microsatellite markers linked to the previously identified febrile convulsion loci, FEB1, FEB2, and GEFS+, and we performed two-point linkage analyses by assuming an autosomal dominant mode of inheritance [20].
• In this review, we discuss the ways in which accumulating evidence on the genetics of epilepsy and febrile seizures can inform health care practitioners advising patients and families with epilepsy [21].

Anatomical context of Seizures, Febrile

• This article briefly reviews those models that most closely parallel human mesial temporal lobe epilepsy, trauma-induced epilepsy, febrile seizures, and hypoxia-induced seizures [18].
• BACKGROUND: Previous studies have suggested a variety of factors that may be associated with the presence of hippocampal formation (HF) atrophy in patients with complex partial seizures (CPS), including a history of complex or prolonged febrile seizures (FS), age at seizure onset, and epilepsy duration [22].
• The risk of developing epilepsy is extremely low and, even in those patients who do, there is no evidence that recurrent simple febrile seizures produce structural central nervous system damage [23].
• The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum [24].

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

• We used gas chromatography and mass spectrometry to measure CSF GABA levels in 14 children with febrile seizures [16].
• Adenosine monophosphate, inosine monophosphate, inosine, adenosine, guanosine, adenine, guanine, hypoxanthine, xanthine, uric acid, and pyrimidines bases were determined in cerebrospinal fluid (CSF) of 52 children after simple febrile seizures and in a control group of 63 children [29].
• PURPOSE: Retrospective studies suggest that adult patients with intractable epilepsy may have a history of febrile seizures in childhood [30].
• The risk of subsequent epilepsy within the first 2 years was the same, regardless of receiving prophylaxis (3%) or not (3%); it was low after simple febrile convulsions (no cases of epilepsy in 230 children) but considerable after complex febrile seizures (20%) or seizures associated with severe interictal EEG abnormalities (50%) [31].
• An epidemiologic study of febrile seizures and epilepsy in children [32].

References