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Article

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.

American journal of human genetics - 1 Apr 2007

Leach Natalia T, Sun Yi, Michaud Sebastien, Zheng Yi, Ligon Keith L, Ligon Azra H, Sander Thomas, Korf Bruce R, Lu Weining, Harris David J, Gusella James F, Maas Richard L, Quade Bradley J, Cole Andrew J, Kelz Max B, Morton Cynthia C

Abstract excerpt

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...

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Share to Translocation, Genetic
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to Chromosomes, Human, Pair 2

Share to Diacylglycerol Kinase

Share to Electroencephalography

Share to In Situ Hybridization, Fluorescence

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Source

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Identifiers

PMID: 17357084
DOI: 10.1086/513019
PMCID: PMC1852716

Genes

DGKD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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