Evidence for a genetic etiology of temporal - central abnormalities in focal epilepsy

Bray, Patrick F.; Wiser, Wilmer C.

doi:10.1097/00006199-196501420-00086

Cited by 22 publications

(31 citation statements)

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“…1) [55]. Focal sharp waves are found in up to 30% of sibs of carriers [12,13,47], but in only about 2% of healthy children [31,40]. Familial occurrence is independent of other genetic EEG traits [23,26,42].…”

Section: Focal and Multifocal Sharp Wavesmentioning

confidence: 99%

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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: Focal and Multifocal Sharp Wavesmentioning

confidence: 99%

“…Familial occurrence is independent of other genetic EEG traits [23,26,42]. Further study is required to determine the validity of hypotheses implicating an autosomal dominant gene with agedependent expressivity and incomplete penetrance [12,13,47].…”

Section: Focal and Multifocal Sharp Wavesmentioning

confidence: 99%

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

1989

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“…1 (Fig 2). J.C, which at times appeared synchronously at lower voltage over homologous areas of the opposite hemisphere (Fig 9).…”

mentioning

confidence: 97%

The Relation of Focal to Diffuse Epileptiform EEG Discharges in Genetic Epilepsy

Bray¹,

Wiser²

1965

Archives of Neurology

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“…Benign rolandic epilepsy seizures typically begin with sensory-motor symptoms, usually with a smell-oral or a lower limb distribution, either case showing BravaisJacksonian pro g ression and associated with phonatory b l o c k a g e 1 . Abnormalities similar to those presented by patients with benign rolandic epilepsy can be seen in 30% of their relatives, but also in 5% of pediatric patients randomly selected 2 . As an isolated finding, epilept i f o rm activity was found in the EEG tracing of 0.5% of 13,658 young adult volunteers 3 .…”

Section: Casesmentioning

confidence: 72%

Syncope or epileptic fits? Some examples of diagnostic confounding factors

Kowacs

Júnior

Santos

et al. 2005

Arq. Neuro-Psiquiatr.

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-Syncope is a condition often misdiagnosed as epileptic seizures. However, the diff e rential diagnosis between both conditions can be quite difficult, even for well-trained physicians. Four cases of epilepsy and/or syncope are reported, to exemplify this situation. Each case is discussed individually, and the confounding factors are analyzed.KEY WORDS: epilepsy, syncope, seizures, differential diagnosis, non-epileptic events.Síncopes ou crises epilépticas? Alguns exemplos de fatores de confusão diagnóstica RESUMO -Síncope é uma condição freqüentemente diagnosticada equivocadamente como crise epilépti-ca. No entanto, existem algumas situações nas quais a diferenciação entre ambas pode ser difícil até mesmo para alguns médicos ou especialistas bastante familiarizados com essas condições. Quatro casos de pacientes com epilepsia e/ou síncope procuraram os autores para elucidação diagnóstica. Cada caso é discutido individualmente, assim como os potenciais fatores de confusão são analisados.

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Evidence for a genetic etiology of temporal - central abnormalities in focal epilepsy

Cited by 22 publications

References 0 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

The Relation of Focal to Diffuse Epileptiform EEG Discharges in Genetic Epilepsy

Syncope or epileptic fits? Some examples of diagnostic confounding factors

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