Clinical and electroencephalographic study of first-degree relatives and probands with juvenile myoclonic epilepsy

Jayalakshmi, Sita; Mohandas, Sukhada; Sailaja, S.; Borgohain, Rupam

doi:10.1016/j.seizure.2005.12.011

Cited by 40 publications

(31 citation statements)

References 32 publications

(64 reference statements)

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“…Actually, different epileptic syndromes such as childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), or generalized tonic-clonic seizures only (GTCS) may be observed in members of the same family, thus suggesting that they are genetically related to JME and that the genetic alterations responsible for JME may also underlie these non-JME forms of GGEs. 2,4 In three multigenerational families parents had adult onset GGE, while in children an earlier age of seizure onset was observed. Larger study group is needed to clarify the possible explanation.…”

Section: Resultsmentioning

confidence: 99%

“…Although concordance analysis demonstrated that there is greater clustering within families of GGE syndrome, seizure type and age at onset that would be expected by chance, 2 the phenotypic heterogeneity is common: numerous studies revealed that about 40% of the families probands and relatives has JME only, the others have members with additional forms of GGE. 3,4 Although the exact type of inheritance is currently not known, the rare family and genetic studies indicate rather contradictory modes: autosomal dominant, recessive, maternal or complex. 5,6 In this study, we evaluate clinical features of probands with JME and phenotypes of affected members of their families in order to study clinical genetics of JME.…”

Section: Introductionmentioning

confidence: 99%

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Clinical genetic study in juvenile myoclonic epilepsy

Cvetkovska

Panov

Kuzmanovski

2014

Seizure

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical genetic study in juvenile myoclonic epilepsy

Cvetkovska

Panov

Kuzmanovski

2014

Seizure

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“…Given that the proportion of individuals with IGE who have affected relatives appears to be high (Marini et al, 2003; Jayalakshmi et al, 2006), one option is to concentrate on families that have phenotypic data available on more than one affected member. This would allow a greater understanding of the phenotypic effect of the pre-disposing genetic variant within that family.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

et al. 2008

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SummaryIntroduction-A crucial issue in the genetic analysis of idiopathic generalized epilepsy (IGE) is deciding on the phenotypes that are likely to give the greatest power to detect predisposing variants. A complex inheritance pattern and unclear nature of the genotype-phenotype correlation makes this task difficult. In the absence of much definitive genetic information to clarify this correlation, we inferred the putative effects of predisposing genes by studying the clustering of various phenotypic features, both clinical and electrophysiological, within families.

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“…Eleven studies (Doose et al, 1973;Heijbel et al, 1975;Degen and Degen, 1990a;Degen and Degen, 1990b;Atakli et al, 1999;Serra et al, 2001;Jayalakshmi et al, 2006 SPSW: generalized >3-Hz spike or polyspike-and-slow waves, 3-Hz SW: 3-Hz spike-and-slow waves, CTS: centrotemporal sharp or spike waves. JME, CAE and RE: EEG of asymptomatic relatives Verrotti et al, 2013) were included in the meta-analysis.…”

Section: Meta-analysismentioning

confidence: 99%

EEG of asymptomatic first‐degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta‐analysis

Tashkandi

Baarma

Tricco

et al. 2019

Epileptic Disorders

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Aims. Rolandic (RE), childhood absence (CAE) and juvenile myoclonic (JME) epilepsy encompass centrotemporal sharp waves, 3‐Hz spike waves and >3‐Hz spike or polyspike waves, respectively. Evidence abounds for genetic roles in all three syndromes, yet involved genes for the vast majority of patients remain unknown. It has long been proposed that while each disease is genetically complex, its specific EEG trait may represent a genetically simpler endophenotype. This meta‐analysis of the literature focuses on the frequency of EEG traits in clinically unaffected first‐degree relatives towards determining inheritance patterns of the EEG endophenotypes.Methods. We used the Preferred Reporting Items for Systematic Review and Meta‐Analysis for protocols (PRISMA‐P) and searched Medline, EMBASE, CINHAL and the Cochrane Central Register of Controlled Trials.Results. Following extensive screening, 15 studies were included with a total of 3,858 asymptomatic relatives. The prevalence of ‘abnormal’ EEG waves was 21%, 42% and 33% for JME, CAE and RE, respectively, close to what would be expected based on Mendelian inheritance. However, breaking down the reported EEG abnormalities, most consisted not of the respective EEG signature traits ‐prevalences of which were as low as 5%‐ but of non‐specific EEG ‘abnormalities’/variants.Conclusions. Prevalence of non‐specific EEG ‘abnormalities’/variants in the general population ranges from 0.1 to 10%. Underlying this 100‐fold‐wide range is a spectrum of what is considered ‘abnormal’ or variant. The prevalences of ‘abnormalities’/variants in asymptomatic siblings in RE, CAE and JME significantly exceed even the highest value in the general population and fall within Mendelian expectations. These results suggest that EEG ‘abnormalities’/variants shared with the general population are enriched in the three syndromes and are endophenotypes inherited in a genetically simple near‐Mendelian fashion. Future work with modern EEG variant definitions should uncover genetic variants contributing to neuronal hypersynchrony in epilepsy.

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Clinical and electroencephalographic study of first-degree relatives and probands with juvenile myoclonic epilepsy

Cited by 40 publications

References 32 publications

Clinical genetic study in juvenile myoclonic epilepsy

Clinical genetic study in juvenile myoclonic epilepsy

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

EEG of asymptomatic first‐degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta‐analysis

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