Juvenile myoclonic epilepsy and human leukocyte antigens

Moen, Torolf; Brodtkorb, Eylert; Michler, Ralf Peter; Holst, A.

doi:10.1016/s1059-1311(95)80090-5

Cited by 11 publications

(4 citation statements)

References 21 publications

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“…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

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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

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Section: Resultsmentioning

confidence: 99%

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

et al. 2017

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“…Juvenile myoclonic epilepsy (JME) was shown to be linked to the BF and HLA loci on human chromosome 6 in two population groups from the United States and Germany (45,46) and with HLA-DRW13 (W6) in Arab patients (47). A study from Norway concluded that there was no clue as to a primary HLA-DQ association with JME (48). The report of linkage of convulsions and the EEG trait to the chromosome 6 locus in one large family with JME supports the contention that some "genes" predisposing to the susceptibility to seizures may be located near the HLA locus (49).…”

Section: Discussionmentioning

confidence: 99%

Family Studies and Human Leukocyte Antigen Class II Typing in Indian Probands with Seizures in Association with Single Small Enhancing Computed Tomography Lesions

et al. 1999

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Summary:Purpose: To define the clinical features of the syndrome of seizures associated with single, small, enhancing computed tomography (CT) lesions (SSELs) in 235 Indian probands and seizure types among their family members. Human leukocyte antigen (HLA) class I1 genomic typing in randomly selected 41 probands was done to identify the role of hereditary factors in this syndrome.Methods: The seizure types among 235 probands, their clinical outcome, and seizures in their family members were studied. Family data were collected on relatives of 212 additional probands with neurologic diseases other than epilepsy. HLA class I1 antigens were studied by using polymerase chain reaction (PCR) amplified DNA and sequence-specific oligonucleotide probe (PCR-SSOP) hybridization.Results: The seizures in 86% were partial with or without generalization; 77% had fewer than five seizures before the first CT scan. Evanescent focal neurologic deficits after seizures were noted in 40%. Most patients (97%) were treated with a single antiepileptic drug (AED). Significant resolution of the CT scan lesion was noted within 6 months in 125 (53%) of 235 cases. Two thirds of patients had no seizures while taking a single AED, and an additional 18% had no seizures even after their AEDs were discontinued. Epilepsy among relatives of Indian probands having seizures in association with SSELs was more common as compared with relatives of probands with other neurologic diseases. A family history of seizures was noted in 21% probands, the ratio of affected first-to seconddegree relatives was 4.3: 1, and 60% of affected sibs had syndromic concordance with probands. There was a positive association of HLA-DRB1*13 (P, = 0.036) with this syndrome. Conc1usion.s:The syndrome of seizures in association with SSELs seems to be a benign localization-related epileptic syndrome. Our results of HLA studies point to an inherited susceptibility to an infective agent, which in most cases is of cysticercal etiology.

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“…However, both Elmslie et al (1996) and failed to find any evidence suggesting linkage of JME to markers centromeric to HLA. Finally, Durner et al (1992), Obeid et al (1994), Greenberg et al (1995), and Moen et al (1995) found evidence of association of JME and HLA alleles.…”

Section: Introductionmentioning

confidence: 87%

Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic Epilepsy

Greenberg

Durner

Keddache

et al. 2000

The American Journal of Human Genetics

118

122

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Evidence for genetic influences in epilepsy is strong, but reports identifying specific chromosomal origins of those influences conflict. One early study reported that human leukocyte antigen (HLA) markers were genetically linked to juvenile myoclonic epilepsy (JME); this was confirmed in a later study. Other reports did not find linkage to HLA markers. One found evidence of linkage to markers on chromosome 15, another to markers on chromosome 6, centromeric to HLA. We identified families through a patient with JME and genotyped markers throughout chromosome 6. Linkage analysis assuming equal male-female recombination probabilities showed evidence for linkage (LOD score 2.5), but at a high recombination fraction (theta), suggesting heterogeneity. When linkage analysis was redone to allow independent male-female thetas, the LOD score was significantly higher (4.2) at a male-female theta of.5,.01. Although the overall pattern of LOD scores with respect to male-female theta could not be explained solely by heterogeneity, the presence of heterogeneity and predominantly maternal inheritance of JME might explain it. By analyzing loci between HLA-DP and HLA-DR and stratifying the families on the basis of evidence for or against linkage, we were able to show evidence of heterogeneity within JME and to propose a marker associated with the linked form. These data also suggest that JME may be predominantly maternally inherited and that the HLA-linked form is more likely to occur in families of European origin.

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Juvenile myoclonic epilepsy and human leukocyte antigens

Cited by 11 publications

References 21 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

Family Studies and Human Leukocyte Antigen Class II Typing in Indian Probands with Seizures in Association with Single Small Enhancing Computed Tomography Lesions

Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic Epilepsy

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