ArticleAmerican journal of human genetics2007
Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 46 citations in OpenAlex.
- Modulators of Diacylglycerol Kinase Activity: A Review of Advances and Challenges.Medicinal research reviews · 2026Review
- Diacylglycerol Kinases and Its Role in Lipid Metabolism and Related Diseases.International journal of molecular sciences · 2024Review
- Bioinformatics-Based Identification of Key Prognostic Genes in Neuroblastoma with a Focus on Immune Cell Infiltration and Diagnostic Potential of VGF.Pharmacogenomics and personalized medicine · 2024Article
- Endometrial DNA methylation signatures during the time of breeding in relation to the pregnancy outcome in postpartum dairy cows fed a control diet or supplemented with rumen-protected methionine.Frontiers in genetics · 2023Article
- Article
- UsingFrontiers in cell and developmental biology · 2021Review
- Mania- and anxiety-like behavior and impaired maternal care in female diacylglycerol kinase eta and iota double knockout mice.Genes, brain, and behavior · 2020Article
- Roles of DGKs in neurons: Postsynaptic functions?Advances in biological regulation · 2020Review
- RNA-Seq transcriptome analysis of breast muscle in Pekin ducks supplemented with the dietary probiotic Clostridium butyricum.BMC genomics · 2018Article
- Diacylglycerol kinase (DGKA) regulates the effect of the epilepsy and bipolar disorder treatment valproic acid inDisease models & mechanisms · 2018Article
- Sleep Related Epilepsy and Pharmacotherapy: An Insight.Frontiers in pharmacology · 2018Review
- A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?Frontiers in pediatrics · 2017Article
- The Pleckstrin Homology Domain of Diacylglycerol Kinase η Strongly and Selectively Binds to Phosphatidylinositol 4,5-Bisphosphate.The Journal of biological chemistry · 2016Article
- Distinct expression and localization of the type II diacylglycerol kinase isozymes δ, η and κ in the mouse reproductive organs.BMC developmental biology · 2015Article
- Expression and localization of type II diacylglycerol kinase isozymes δ and η in the developing mouse brain.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2015Article
- Diacylglycerol kinase as a possible therapeutic target for neuronal diseases.Journal of biomedical science · 2014Review
- Diacylglycerol kinase θ: regulation and stability.Advances in biological regulation · 2013Article
- Dual regulation of diacylglycerol kinase (DGK)-θ: polybasic proteins promote activation by phospholipids and increase substrate affinity.The Journal of biological chemistry · 2012Article
- Rapid eye movement sleep debt accrues in mice exposed to volatile anesthetics.Anesthesiology · 2011Article
- Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.American journal of human genetics · 2008Article
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 2 countries.
Funding
Abstract
We report a female patient with a de novo balanced translocation, 46,X,t(X;2)(p11.2;q37)dn, who exhibits seizures, capillary abnormality, developmental delay, infantile hypotonia, and obesity. The 2q37 breakpoint observed in association with the seizure phenotype is of particular interest, because it lies near loci implicated in epilepsy in humans and mice. Fluorescence in situ hybridization mapping of the translocation breakpoints showed that no known genes are disrupted at Xp11.2, whereas diacylglycerol kinase delta (DGKD) is disrupted at 2q37. Expression studies in Drosophila and mouse suggest that DGKD is involved in central nervous system development and function. Electroencephalographic assessment of Dgkd mutant mice revealed abnormal epileptic discharges and electrographic seizures in three of six homozygotes. These findings implicate DGKD disruption by the t(X;2)(p11.2;q37)dn in the observed phenotype and support a more general role for DGKD in the etiology of seizures.
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Registered trials
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.