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Literature summary for 2.7.1.107 extracted from

  • Leach, N.T.; Sun, Y.; Michaud, S.; Zheng, Y.; Ligon, K.L.; Ligon, A.H.; Sander, T.; Korf, B.R.; Lu, W.; Harris, D.J.; Gusella, J.F.; Maas, R.L.; Quade, B.J.; Cole, A.J.; Kelz, M.B.; Morton, C.C.
    Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice (2007), Am. J. Hum. Genet., 80, 792-799.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.1.107

Application

Application Comment Organism
medicine diacylglycerol kinase delta knock-down mice reveal abnormal epiletic discharges and electrographic seizures in three out of six homozygotes Mus musculus
medicine in 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, diacylglycerol kinase delta is disrupted at 2q37.Diacylglycerol kinase delta is involved in the etiology of seizures Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information diacylglycerol kinase delta knock-down mice reveal abnormal epiletic discharges and electrographic seizures in three out of six homozygotes Mus musculus
additional information in 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, diacylglycerol kinase delta is disrupted at 2q37. Diacylglycerol kinase delta is involved in the etiology of seizures Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q16760 isoform diacylglycerol kinase delta. 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
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Mus musculus
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