Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0009952 (febrile convulsions)
 1,215 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

21 Italian families with at least two members who had had febrile convulsions (FC) were HLA-typed for class I antigens. A total of 49 subjects and 43 close relatives (parents or sibs) were examined. No single antigen or haplotype was statistically more frequent among pooled FC subjects. The study, however, is not conclusive regarding a relationship between FC and HLA region because of the possible genetic heterogeneity of proneness to FC. In a significant proportion of cases two FC affected sibs had unaffected parents: besides the models of inheritance so far proposed for this pathology, the involvement of two complementary dominant factors was also considered. The report includes uncommon cases: a family where one FC affected parent transmitted the same HLA haplotype to all three affected sibs; two more families, with both parents and progeny affected by FC. The HLA typing of all members of these unusual families, although not furnishing relevant information at present, may be of value to other investigators.
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PMID:HLA study of 21 families with two or more members affected by febrile convulsions. 208 82

Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. All the examined children were typed for 14 HLA-A, 23 HLA-B, 7 HLA-C and 9 HLA-DR specificities, and compared with a group of healthy subjects. The HLA-A11 antigen was present in 25% of the children with chronic CMV infection and epilepsy, and absent in patients with epilepsy but without CMV infection (p less than 0.02). The possibility that the A11 antigen is a marker of the predisposing genes for CMV infection in children with epilepsy following FC is proposed.
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PMID:HLA antigens, epilepsy and cytomegalovirus infection. 285 Dec 70

Thirty-nine mentally normal unrelated children diagnosed as having febrile convulsions were included in this study. The following have been carried out: (a) detailed anamnesis and clinical examination; (b) cerebrospinal fluid investigation; (c) EEG examination between attacks; (d) HLA-antigen determination; (e) estimation of serum IgA, IgG, IgM; and (f) counting of percent spontaneous E-rosette formation. The results were statistically compared to normal Egyptian controls. The results could be summarised as follows. (1) Only HLA-B5 antigen frequency is high among patients (chi 2c = 19.1, P less than 0.0001). Relative risk is 4.4 which shows significant association (WY2 = 29.145, P less than 0.0001) and etiologic fraction equals 0.377. (2) The means of IgA and E-rosette in the patients were significantly low (t = 3.46, P less than 0.01 and t = 3.92, P less than 0.001, respectively), (3) HLA-B5 is the only antigen with high frequency among the two groups of patients with low IgA and E-rosette (chi 2c = 11.9 and 18.2, respectively). (4) There is a significant association between B5 and low IgA (P less than 0.05) but not with low E-rosette (P greater than 0.05). The suggestion is that the genetic control of febrile convulsions is in linkage disequilibrium with HLA-B5, low IgA and low total T-cells. This altered immune function in otherwise normal children with febrile convulsions may predispose them to acute infections and high fever which precipitate convulsions.
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PMID:Immunogenetic aspects of febrile convulsions. 349 97

One hundred children consecutively treated for simple febrile convulsions (FC) were investigated with respect to hereditary factors. Twenty-five of the children had parents or siblings with FC. HLA-typing was performed in all available members of ten families with one or two FC children and one FC parent, and in one family with two FC children but no FC parent. There was no clear association with a particular HLA haplotype in any of these families.
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PMID:Heredity in febrile convulsions: is it HLA-dependent? 368 55

Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with epilepsies in the United States, approximately 50% have generalized epilepsies. Among all epilepsies, the most common are juvenile myoclonus epilepsy (JME) with 10% to 30% of cases, childhood absence epilepsy (CAE) with 5% to 15% of cases, and pure grand mal on awakening with 22% to 37% of cases. In the last decade, six different chromosomal loci for common generalized epilepsies have been identified. These include two separate loci for JME in chromosomes 6p and 15q. The epilepsy locus in chromosome 6p expresses the phenotypes of classic JME, pure grand mal on awakening, and possibly JME mixed with absences. Two separate loci also are present for pyknoleptic CAE, namely, CAE that evolves to JME in chromosome 1p and CAE with grand mal in chromosome 8q24. Pandolfo et al. from the Italian League Against Epilepsy have reported two other putative susceptibility loci for idiopathic generalized epilepsies, namely, grand mal and generalized spike waves 35l in chromosome 3p and generalized epilepsies with febrile convulsions, grand mal, JME, absences, and electroencephalographic spike waves in 8q24. This chapter reports on the debate concerning whether there may be two separate epilepsy loci in chromosome 6p, one in the HLA region and one below HLA. The chapter then discusses the progress made in our laboratories as a result of the Genetic Epilepsy Studies (GENES) International Consortium. We discuss (a) the 2 to 6 cM critical region for classic JME located some 20 cM below HLA in chromosome 6p, (b) the 7-cM area for pyknoleptic CAE that evolves to JME in chromosome 1p, and (c) the 3.2 cM area for pyknoleptic CAE with grand mal and irregular 3 to 4 Hz spike waves in chromosome 8q24. We discusses efforts underway to refine the genetic map of JME in chromosome 6p11 and the advances in physical mapping and positioning of candidate genes, such as the gamma-aminobutyric acid receptor gene, the potassium channel gene of the long-QT family (KvLQT), named KCNQ3, and the human homologue of the mouse jerky gene for CAE in chromosome 8q24 and JME in chromosome 6p11.
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PMID:Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy. 1051 26