On the Genetics of EEG-Anomalies in Childhood1 – I. Abnormal theta rhythms

Doose, H; Gerken, H; Völzke, E

doi:10.1055/s-0028-1091777

Cited by 34 publications

(33 citation statements)

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“…[20] This EEG pattern is found predominantly in corticoreticular epilepsies of early childhood and in febrile convulsions. It has been demonstrated in up to 30% of sibs of carriers of the trait, with marked age-dependency [20,26]. In contrast, positive findings were obtained in only 2% of sibs of individuals lacking theta rhythms on repeated EEG examination.…”

Section: Genetic Basis Of Seizure Liabilitymentioning

confidence: 69%

“…Extensive studies [23,26,41,42] indicate that except possibly for certain forms of spikes and waves, they are independently transmitted. In individual cases, the presence of one or more of these EEG characteristics indicates that a hereditary seizure liability may be at least partially responsible for the epilepsy.…”

Section: Resultsmentioning

confidence: 99%

“…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]. 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: 98%

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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: Genetic Basis Of Seizure Liabilitymentioning

confidence: 69%

Section: Resultsmentioning

confidence: 99%

Section: Focal and Multifocal Sharp Wavesmentioning

confidence: 98%

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

1989

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“…Muscle biopsy and lumbar puncture were performed on 12 patients (12,14,16,17,18,19,20,21,24,27,31,35) and lumbar puncture on patient 10. Light and electron microscopic studies were carried out on all the biopsies.…”

Section: Methodsmentioning

confidence: 99%

“…There is rapidly increasing knowledge concerning this group of disorders. 3 The metabolic defect produces cellular dysfunction and structural changes gradually I "'3 4 9 1 11 12 13 14 15 16 follow. Atrophic changes are seen in the central and peripheral nervous system and in skeletal muscles.…”

mentioning

confidence: 99%

Epilepsy in a mitochondrial disorder.

Torbergsen

Mathiesen

Aasly

1991

Journal of Neurology, Neurosurgery & Psychiatry

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In a large family with maternally inherited mitochondrial disease, a mild defect in the NADH-ubiquinone oxidoreductase step (complex 1) in the respiratory chain was found. Epilepsy was seen in nine (22%) of the 37 family members. Five of them, belonging to one branch of the family, had myoclonus epilepsy and EEG abnormalities consistent with this. The remaining four patients, belonging to other branches of the family tree, had partial epilepsy. Neurological symptoms also varied in different parts of the family. Possible explanations for the differences in phenotypic expressions are discussed.

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Segregation analysis of juvenile myoclonic epilepsy

Greenberg

Delgado‐Escueta²,

Maldonado³

et al. 1988

Genetic Epidemiology

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We examined the inheritance of juvenile myoclonic epilepsy (JME). We looked at both the trait of "epilepsy" and the trait of "epilepsy-plus-EEG abnormalities," since EEG abnormalities are frequently found in the clinically unaffected sibs of JME patients. We tested several modes of inheritance including the fully penetrant recessive and several two-locus models. We could reject all models tested (fully penetrant single-locus and two-locus models) when abnormal EEGs were classified as "unaffected." We could also reject the fully penetrant single locus models when family members with abnormal EEGs were considered "affected." We also rejected the two-locus model where the inheritance at both loci was dominant. The two-locus model where both loci showed recessive inheritance could not be rejected, nor could the model where one locus was dominant and the other recessive. Our results suggest that the underlying predisposition for JME is genetically determined and is partially reflected in the abnormal EEGs found in clinically unaffected family members.

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On the Genetics of EEG-Anomalies in Childhood1 – I. Abnormal theta rhythms

Cited by 34 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

Epilepsy in a mitochondrial disorder.

Segregation analysis of juvenile myoclonic epilepsy

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