Twin Studies in Epilepsy

Anderson, Vernon E.; Wilcox, Kimerly J.; Rich, Scott; Leppik, Ilo E.; Hauser, W. Allen

doi:10.1007/978-3-642-95553-2_19

Cited by 17 publications

(14 citation statements)

References 19 publications

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“…38, NO. 2,1997 also conditions that may not be classified as epilepsies (32 with isolated single seizures). The epilepsies and epileptic syndromes among the family members were also similarly classified, and 67 affected relatives had either febrile convulsions or isolated single seizures.…”

Section: Discussionmentioning

confidence: 99%

“…38, No. 2,1997 historic information (e.g., perinatal insults, serious head injury, stroke, brain infection) and the findings on neuroimaging as and when available. It was not possible to perform imaging studies in all the cases because of the limited resources available in a developing country like India.…”

Section: (Ss)mentioning

confidence: 99%

“…The remainder with identied etiologic factors are called symptomatic. The interpretations that most of the idiopathic generalized epileptic syndromes are genetic in origin have mainly resulted from the observations of fa-milial aggregation of either the epilepsy or the associated EEG abnormality (1) and the higher concordance rates in monozygotic than in dizygotic twins (2).…”

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Occurrence of Epilepsies in Family Members of Indian Probands with Different Epileptic Syndromes

et al. 1997

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Summary:Purpose: Large numbers of families with many members having seizures have been used to understand the role of hereditary factors in the pathogenesis of human epileptic syndromes. We aimed to establish a genetic database to form a hypothesis on the possible genetic contributions in different epileptic syndromes.Methods: The occurrence and patterns of different epilepsies and epileptic syndromes in 1,219 Indian probands and their relatives were studied. The concordance of epilepsies between probands and relatives was also analyzed.Results: Of probands, 231 (19% of 1219) had first-or second-degree relatives affected with seizures. Incidence of family history in probands with generalized epilepsies (GES) and syndrome of single, small, enhancing lesions (SSEL) was comparable and significantly higher than that in probands with localization-related epilepsies (LRES). The ratio of affected first-to second-degree relatives was close to 4: 1. Generalized epilepsies were the commonest type of epileptic syndromes seen among all relatives. The proportion of sibs and seconddegree relatives with epileptic syndromes similar to probands was significantly greater in the GES group as compared with the concordant relatives of probands with LRES and SSEL.Conclusions: A significant percentage of first-and seconddegree relatives of probands with all types of epileptic syndromes have seizures. The risk of relatives being affected varied as a function of the relation with the proband. Concordance of epileptic syndromes between probands and relatives was related to the epileptic syndromes in probands. The syndrome of SSEL is probably a benign epileptic syndrome seen in Indians genetically predisposed to seizures. Hereditary factors may play an almost equal role in the predisposition of relatives to epilepsy in families of probands with different epileptic syndromes.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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Occurrence of Epilepsies in Family Members of Indian Probands with Different Epileptic Syndromes

et al. 1997

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“…Although there have been many reports of epilepsy in mitochondrial disease, these have tended to be in either pediatric series and/or of small numbers of adult patients with sometimes poorly defined molecular defects 17, 18, 19. Furthermore, the prevalence rates for epilepsy vary widely between reports 20, 21.…”

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Epilepsy in adults with mitochondrial disease: A cohort study

Whittaker

Devine

Gorman

et al. 2015

Annals of Neurology

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ObjectiveThe aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease.MethodsWe prospectively recruited a cohort of 182 consecutive adult patients attending a specialized mitochondrial disease clinic in Newcastle upon Tyne between January 1, 2005 and January 1, 2008. We then followed this cohort over a 7‐year period, recording primary outcome measures of occurrence of first seizure, status epilepticus, stroke‐like episode, and death.ResultsOverall prevalence of epilepsy in the cohort was 23.1%. Mean age of epilepsy onset was 29.4 years. Prevalence varied widely between genotypes, with several genotypes having no cases of epilepsy, a prevalence of 34.9% in the most common genotype (m.3243A>G mutation), and 92.3% in the m.8344A>G mutation. Among the cohort as a whole, focal seizures, with or without progression to bilateral convulsive seizures, was the most common seizure type. Conversely, all of the patients with the m.8344A>G mutation and epilepsy experienced myoclonic seizures. Patients with the m.3243A>G mutation remain at high risk of developing stroke‐like episodes (1.16% per year). However, although the standardized mortality ratio for the entire cohort was high (2.86), this ratio did not differ significantly between patients with epilepsy (2.96) and those without (2.83).InterpretationEpilepsy is a common manifestation of mitochondrial disease. It develops early in the disease and, in the case of the m.3243A>G mutation, often presents in the context of a stroke‐like episode or status epilepticus. However, epilepsy does not itself appear to contribute to the increased mortality in mitochondrial disease. Ann Neurol 2015;78:949–957

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“…To date, the focus in epilepsy has been in explaining variation in susceptibility to the disease (Anderson et al, 1989;Berkovic et al, 1993;Berkovic et al, 1996;Berkovic et al, 1998;Corey et al, 1991;Kjeldsen et al, 2001;Lennox, 1951;Miller et al, 1998;Miller et al, 1999;Sillanpaa et al, 1991). Yet for someone developing the disease, a key question is whether or not their seizures will cease.…”

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confidence: 99%