ArticleBrain & development2006
Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy.
Article in Brain & development, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 43 citations in OpenAlex.
- Sex-specific disease modifiers in juvenile myoclonic epilepsy.Scientific reports · 2022Article
- Sex differences in characteristics of idiopathic generalized epilepsies.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Trait impulsivity in Juvenile Myoclonic Epilepsy.Annals of clinical and translational neurology · 2021Article
- Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy.Annals of clinical and translational neurology · 2021Article
- The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence.Annals of neurology · 2020Article
- DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians.Epilepsia · 2018Article
- Familial Liability to Epilepsy and Attention-Deficit/Hyperactivity Disorder: A Nationwide Cohort Study.Biological psychiatry · 2018Article
- DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.American journal of human genetics · 2016Article
- A Variant of GJD2, Encoding for Connexin 36, Alters the Function of Insulin Producing β-Cells.PloS one · 2016Article
- Structural and functional correlates of epileptogenesis - does gender matter?Neurobiology of disease · 2014Review
- Association of the GRM4 gene variants with juvenile myoclonic epilepsy in an Indian population.Journal of genetics · 2014Article
- Article
- Genetic evaluation and counseling for epilepsy.Nature reviews. Neurology · 2010Review
- The essence of linkage-based imprinting detection: comparing power, type 1 error, and the effects of confounders in two different analysis approaches.Annals of human genetics · 2010Article
- Maternal transmission of Alzheimer's disease: prodromal metabolic phenotype and the search for genes.Human genomics · 2010Review
- Double bromodomain-containing gene Brd2 is essential for embryonic development in mouse.Developmental dynamics : an official publication of the American Association of Anatomists · 2009Article
- The state of the art in the genetic analysis of the epilepsies.Current neurology and neuroscience reports · 2007Review
- Let's Talk About Sex and Juvenile Myoclonic Epilepsy.Epilepsy currentsArticle
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundJuvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy (IGE) with complex inheritance. Previous studies have suggested maternal inheritance and female excess in IGEs but have not been specific for JME. We investigated evidence for maternal inheritance, female excess and patterns of familial seizure risk in a well-characterized sample of JME families.
methodsWe ascertained 89 families through a JME proband and 50 families through a non-JME IGE proband. JME families were divided into those with and without evidence of linkage to the EJM1 susceptibility locus on chromosome 6. We analyzed transmission in 43 multigenerational families, calculated the adjusted sex ratio for JME, and looked for evidence of seizure specific risk in 806 family members.
resultsWe found evidence for preferential maternal transmission in both EJM1-linked and unlinked families (2.7:1), evidence even more marked when potential selection factors were excluded. The adjusted female: male risk ratio was very high in JME (RR=12.5; 95% CI: 1.9-83.7). Absence seizures in JME probands increased the overall risk of seizures in first degree relatives (15.8% vs. 7.0%, P=0.011), as well as first-degree relatives' specific risk of absence seizures (6% vs. 1.6%, P=0.01), but not myoclonic seizures.
conclusionsWe have confirmed the finding of maternal inheritance in JME, which is not restricted to JME families linked to the EJM1 locus. The striking female excess in JME may relate to anatomical and/or endocrine sexual dimorphism in the brain. Evidence for independent inheritance of absence and myoclonic seizures in JME families reinforces a model in which combinations of loci confer susceptibility to the component seizure types of IGE.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.