Lack of Association Between Juvenile Myoclonic Epilepsy and HLA‐DR13

Hellard, Stéphanie Le; Neidhart, Elisabeth; Thomas, Pierre; Feingold, Josué; Malafosse, Alain; Tafti, Mehdi

doi:10.1111/j.1528-1157.1999.tb01999.x

Cited by 10 publications

(9 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In relation to representativeness of the controls, fifty-six percent were either population–based or healthy volunteers[36,38–42,45,46,48,51–53,55,58,62–65,67,69–72,74,77,80,82,83] and forty-five percent were both population-based and hospital-based/healthy volunteers/blood donors[34,35,37,43,44,47,49,50,54,56,57,59–61,66,68,73,75,76,78,79,81]. Sixty four percent of control matched only one variable (age, gender or ethnicity) with cases[36–40,42–48,50–54,56,57,62,66,68,69,71,73,75–79,81,82]. Ninety-two percent clearly described diagnosis for JME[35–53,55–78,80,82,83].…”

Section: Resultsmentioning

confidence: 99%

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

et al. 2017

View full text Add to dashboard Cite

BackgroundSeveral genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies.MethodologyA systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality. Beyond outcome measures, information was extracted on the setting for each study, characteristics of population samples and polymorphisms.ResultsFifty studies met eligibility criteria and were used for data extraction. With a single exception, all studies used a candidate gene approach, providing data on 229 polymorphisms in or near 55 different genes. Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations. The lack of consistent associations might be due to variations in experimental design and/or limitations of the approach.ConclusionsThus, despite intense research evidence established, specific genetic variants in JME susceptibility remain inconclusive. We discussed several issues that may compromise the quality of the results, including methodological bias, endophenotype and potential involvement of epigenetic factors.PROSPERO registration numberCRD42016036063

show abstract

Section: Resultsmentioning

confidence: 99%

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

et al. 2017

View full text Add to dashboard Cite

show abstract

“…There is a unanimous agreement about the inheritable nature of the syndrome. Various modes of inheritance have been suggested including autosomal dominant with variable penetrance (7, 20–22). Twenty‐five percent of the patients in our series gave a family history of seizures.…”

Section: Discussionmentioning

confidence: 99%

Juvenile Myoclonic Epilepsy - an experience from north western India

Panagariya

Sureka

Sardana

2001

Acta Neurologica Scandinavica

View full text Add to dashboard Cite

show abstract

“…Studies provided evidence for and against the existence of locus on chromosome 6p (13) (EJM1) or 15q (14) (EJM2). Although susceptibility to JME was not associated with human leukocyte antigen (HLA)‐DR13 (6p) in a French population (15), Morita et al (16) reduced the EJM1 region to 3.7 cM flanked by D6S436 and D6S1662.…”

Section: Chromosomal Localization Of Epilepsy Genesmentioning

confidence: 99%

Genetic Identifiers of Epilepsy

2002

View full text Add to dashboard Cite

Summary: Epilepsy affects >0.5% of the world's population and has a large genetic component. The most common human genetic epilepsies display a complex pattern of inheritance, and the identity of the susceptibility genes is largely unknown despite recent advances in molecular biology. However, genetic identifiers of certain types of epilepsy with neurodegenerative characteristics and of a small number of familial idiopathic epilepsies have been uncovered to date. This article reviews recent progress made in molecular genetics of epilepsy, focusing mostly on idiopathic epilepsy together with our own discovery of novel mutations in the genes of autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions (BFNCs), and the genetic locus of benign adult familial myoclonic epilepsy. Pathogenesis of epilepsy as a channelopathy and of BFNC also is discussed. Key Words: Epilepsy genes-Autosomal dominant nocturnal frontal lobe epilepsy-Benign familial neonatal convulsions-Benign adult familial myoclonic epilepsy-Channelopathy.Epilepsy affects >0.5% of the world's population and has a large genetic component (1). The focus of research on the genetics of the epilepsies is the identification of mutations causing epilepsies, and the abnormal properties of the neuron glia system through the expressed mutations and result in clinical epilepsy. Once the mutated code scripts are identified in the epilepsies, it will lead to an understanding of how neurons are regulated in the face of such abnormal code scripts, and how development is affected during embryogenesis and the immediate postnatal period (2). Improving the classification of epilepsy genotypes will undoubtedly improve calculating sibling risk for epilepsy, and this, in turn, improves riskassessment accuracy and facilitates genetic counseling. However, most idiopathic epilepsies are complex genetic diseases; they occur most frequently in relatives of individuals (3), yet do not exhibit a simple Mendelian pattern, for multiple genes seem to be simultaneously involved, and a diversity of "susceptible" genes collaborate in determining risk (2) This article reviews recent progress in molecular genetics of epilepsy.

show abstract

Lack of Association Between Juvenile Myoclonic Epilepsy and HLA‐DR13

Abstract: Unlike previously reported positive association, in this population, there is no evidence that susceptibility to juvenile myoclonic epilepsy is associated with HLA-DR13.

Cited by 10 publications

References 10 publications

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

Juvenile Myoclonic Epilepsy - an experience from north western India

Genetic Identifiers of Epilepsy

Contact Info

Product

Resources

About