A Genetic Study of Febrile Convulsions

Fukuyama, Yukio; Kagawa, Kazuko; Tanaka, Katsumi

doi:10.1159/000115073

Cited by 46 publications

(23 citation statements)

References 4 publications

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“…In spite of the heterogeneous nature of febrile convulsions [25] family studies indicate that they are often manifestations of a widespread polygenic seizure liability [36,62,69]. Thus, EEGmarkers of a hereditary corticoreticular convulsibility such as 4-7/s rhythms, spikes and waves, photoparoxysmal response, and focal sharp waves are found in 15%-40% of patients [25,27,35,50].…”

Section: A Neurobiological View Of the Benign Partial Epilepsy And Rementioning

confidence: 99%

Benign partial epilepsy and related conditions: Multifactorial pathogenesis with hereditary impairment of brain maturation

1989

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The main clinical and bioelectrical features of the benign partial epilepsies and related conditions are described. Based on highly selected groups, the definition of these suggested syndromes disregards the considerable overlap between borderline and intermediate cases. To understand the great phenotypic variability of these epilepsies, the complexity of causal especially genetic factors must be considered. Different genetic traits, expressed in certain EEG patterns, determine the level of cerebral excitability. These hereditary variables are widespread in the general population. Most are polygenic, focal sharp waves possibly autosomal dominant. In individuals, the coincidence of different traits with little or no clinical significance, results in additive effects lowering the seizure threshold and raising the risk of clinical manifestation. The complexity of causal factors, which, potentially include organic brain lesions, account for the wide spectrum of epileptic and non-epileptic conditions ranging from mild selective performance deficits to complex psychomental retardation, and from simple rolandic epilepsy to severe epilepsies with minor seizures or bioelectrical status. These conditions are not "syndromes" in the stricter sense, but sets of variably weighted symptoms of a complex pathogenetic background. A genetic disposition to focal pathogenetic background. A genetic disposition to focal anomalies of brain function is of decisive importance. The biological background is as of yet unknown. The marked age-dependency of symptoms and almost regular disappearance of seizures and EEG abnormalities at puberty justify the assumption of an hereditary impairment of brain maturation. The hypothesis of autosomal dominant inheritance awaits appraisal by studies of larger populations and quantitative genetic approaches.

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Section: A Neurobiological View Of the Benign Partial Epilepsy And Rementioning

confidence: 99%

Benign partial epilepsy and related conditions: Multifactorial pathogenesis with hereditary impairment of brain maturation

1989

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“…Although the connexions between EEG patterns, seizure types, and familial clustering arc extensively described [Doose, 1980;Degen. 1977;Jan: and Scheffner, 1980;Eisner ct al.. 1960;Fukuyama et al, 1979], results vary and. for most seizure types, they remain too inconclusive to form a picture clear enough to become an essential guideline for teachers as mediators of public opinion.…”

Section: Discussionmentioning

confidence: 98%

Epilepsy and Its Prejudice

Gallhofer

1984

Psychopathology

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150 teachers, 75 from a group of basic schools and 75 from a group of schools on an advanced level were asked to respond to a questionnaire consisting of 194 items in order to find out about their actual state of knowledge, opinions and prejudices against epileptics. 45 stereotype statements had to be rated for ‘epilepsy’, ‘insanity’, and ‘heart disease’. A ranking order of 6 disorders – ‘insanity’, ‘depression’, ‘epilepsy’, ‘heart disease’, ‘amputation of a leg’, and ‘diabetes mellitus’ had to be established. Teachers’ knowledge of epilepsy proved to be somewhat diffuse but in good keeping with reality and they showed an interest in more information and research. Some of their prejudices could be attributed to old ideologies while the acquaintance with epileptics enhanced their knowledge of their real needs. Teachers’ confusions went along with the controversies in medical research.

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“…The genetic predisposition to febrile seizures (FSs) has long been known, based on family studies, twin studies, and complex segregation analysis [LennoxBuchtal, 1971[LennoxBuchtal, , 1973Schiottz-Christensen, 1972;Van den Berg, 1974;Tsuboi, 1977Tsuboi, , 1989Nelson and Ellenberg, 1978;Fukuyama et al, 1979;Hauser et al, 1985;Verity et al, 1985;Rich et al, 1987;Corey et al, 1991]. Although most cases are sporadic and thought to be either nongenetic or to be polygenic traits [Rich et al, 1987], FS in some multicase families is an autosomal dominant trait with reduced penetrance [Rich et al, 1987;Johnson et al, 1996;McLachlan, 1996].…”

Section: Introductionmentioning

confidence: 99%

Hereditary febrile seizures: Phenotype and evidence for a chromosome 19p locus

et al. 1998

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The occurrence of febrile seizures (FSs) in large autosomal dominant FS kindreds makes possible accurate delineation of the pure clinical phenotype of hereditary FS among secondary FS cases, and the identification of gene loci causing susceptibility to FS. Recently FS gene loci on chromosomes 8 and 19 were identified. We studied the phenotype of FS in four large families in which FS is an autosomal dominant trait. Among 30 affected secondary FS cases, mean age of onset was 16.3 months (range 4 to 36 months), sex ratio was equal, and 43% were complex (13 of 30). Among these 30 secondary FS cases, the mean number of FSs was 2.1, half had only a single FS, and none had afebrile seizures. Penetrance was 0.67, approximately the same as in our previous larger group of 40 multicase FS families (0.64). The occurrence of DPT encephalopathy in a sib of a patient with FS raises the possibility that these two etiologies are related. Linkage studies showed that one of the four families (Family 1) was linked to chromosome 19p markers, none of the families was linked to chromosome 8q markers, and the largest FS family (Kindred 6) was unlinked to either 19p or 8q markers, supporting the hypothesis of genetic heterogeneity for FS.

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A Genetic Study of Febrile Convulsions

Cited by 46 publications

References 4 publications

Benign partial epilepsy and related conditions: Multifactorial pathogenesis with hereditary impairment of brain maturation

Benign partial epilepsy and related conditions: Multifactorial pathogenesis with hereditary impairment of brain maturation

Epilepsy and Its Prejudice

Hereditary febrile seizures: Phenotype and evidence for a chromosome 19p locus

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