Genetics of convulsive disorders

Metrakos, Julius D.; Metrakos, Katherine

doi:10.1212/wnl.10.3.228

Cited by 78 publications

(23 citation statements)

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“…However, reporting bias is a concern, as mothers may be more likely to provide family histories and to know their own family history better than their partner's. Several studies have observed more maternal than paternal family histories of epilepsy in unaffected control subjects, consistent with reporting bias . Our dataset did not allow us to perform lineage analysis on unaffected sibships.…”

Section: Discussionsupporting

confidence: 54%

The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

Ellis

Berkovic

Epstein

et al. 2019

Annals of Neurology

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Objective Previous studies have observed that epilepsy risk is higher among offspring of affected women than offspring of affected men. We tested whether this “maternal effect” was present in familial epilepsies, which are enriched for genetic factors that contribute to epilepsy risk. Methods We assessed evidence of a maternal effect in a cohort of families containing ≥3 persons with epilepsy using 3 methods: (1) “downward‐looking” analysis, comparing the rate of epilepsy in offspring of affected women versus men; (2) “upward‐looking” analysis, comparing the rate of epilepsy among mothers versus fathers of affected individuals; and (3) lineage analysis, comparing the proportion of affected individuals with family history of epilepsy on the maternal versus paternal side. Results Downward‐looking analysis revealed no difference in epilepsy rates among offspring of affected mothers versus fathers (prevalence ratio = 1.0, 95% confidence interval [CI] = 0.8–1.2). Upward‐looking analysis revealed more affected mothers than affected fathers; this effect was similar for affected and unaffected sibships (odds ratio = 0.8, 95% CI = 0.5–1.2) and was explained by a combination of differential fertility and participation rates. Lineage analysis revealed no significant difference in the likelihood of maternal versus paternal family history of epilepsy. Interpretation We found no evidence of a maternal effect on epilepsy risk in this familial epilepsy cohort. Confounding sex imbalances can create the appearance of a maternal effect in upward‐looking analyses and may have impacted prior studies. We discuss possible explanations for the lack of evidence, in familial epilepsies, of the maternal effect observed in population‐based studies. ANN NEUROL 2020;87:132–138

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Section: Discussionsupporting

confidence: 54%

The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

Ellis

Berkovic

Epstein

et al. 2019

Annals of Neurology

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“…Metrakos and Metrakos (22,23) identified a specific spike wave complex associated with centrencephalic epilepsy that was clearly inherited as an autosomal dominant pattern. In addition to idiopathic epilepsy, there were cases of epilepsy associated with point mutations that caused neurological diseases, such as tuberous sclerosis, neurofibromatosis, juvenile Huntington's Disease, adult Huntington's Disease, lipid storage diseases, and several other neurological conditions that are based on specific gene alterations that produce neurological deficits (3).…”

mentioning

confidence: 99%

■ REVIEW : Long-Term Modulation of Gene Expression in Epilepsy

DeLorenzo

Morris

1999

Neuroscientist

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Molecular genetics has led to major advances in the study of neurological disease over the last 2 decades. Initial advances were made in understanding specific mutations that were associated with disease, such as epilepsy and other neurological conditions. In addition to specific mutations, recent research has focused on long-lasting or permanent changes in genetic expression as an underlying substrate of acquired diseases such as epilepsy. In symptomatic epilepsy, normal brain tissue is permanently altered and develops spontaneous recurrent seizures. Evidence indicates that long-lasting changes in gene expression at both transcriptional and post-transcriptional levels are associated with epileptogenesis. The expression of transcription factors and other regulatory proteins represent a molecular mechanism for mediating these changes. Understanding the effects of severe environmental stresses on the multiple sites of transcriptional and post-transcriptional regulation of gene expression is likely to provide important insights into the development of altered neuronal function in a number of important disease states, including epilepsy. NEURO-SCIENTIST 5:86-99, 1999 Epilepsy is one of the most common neurological conditions. It is characterized by the occurrence of spontaneous recurrent seizures over the course of the affected person's life. Epilepsy has been shown to occur in approximately 1% of the adult population and 2% of children ( 1 ). Major advances have been made in understanding and characterizing epilepsy. Approximately half of the epilepsies are described as idiopathic (1, 2). Idiopathic epilepsy usually is not associated with an obvious environmental or physiological cause. Idiopathic epilepsies are believed to result in many cases from alterations in genetic expression at the mutational level. However, more than half of the epilepsies are symptomatic or acquired through environmental stress to the nervous system ( 1 ). Such conditions as head trauma, stroke, metabolic disease, tumors, prolonged seizures, or other neurological insults can permanently alter the brain, resulting in the development of epilepsy.

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“…Febrile convulsions parents siblings parents siblings [194] 3.4 4.7 13.6 9.8 Frantzen et al [112] 8.2 10.9 Schiottz-Christensen [118] 14.0 Van den Berg [31 ] 11.5 Kagawa [120] 19.9 Tsuboi [115] 21 .9 with febrile convulsions has been reported to be higher than in the general population [66,112]. Suggested modes of inheritance have included a simple autosomal dominant [112], recessive [113], and polygenic inheritance [114,115].…”

Section: Reportmentioning

confidence: 99%

Epidemiology of Seizure Disorders in Children; pp. 62–83

Leviton¹,

Cowan²

1982

Neuroepidemiology

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This report reviews what is currently known concerning the distribution and determinants of epilepsy in pediatric populations. Data on the magnitude of specific types of seizure disorders are presented, together with current information about the etiology, prognosis, and genetic aspects. Our understanding of the causes of epilepsy in children is still at a rudimentary stage, but results of epidemiologic investigations will provide a firm basis for the formulation and testing of hypotheses relating to etiology and prevention.

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Genetics of convulsive disorders

Cited by 78 publications

References 0 publications

The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

■ REVIEW : Long-Term Modulation of Gene Expression in Epilepsy

Epidemiology of Seizure Disorders in Children; pp. 62–83

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