Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice (Q24682949)

9

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James F. Gusella

11

object named as

James F Gusella

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author name string

Natalia T Leach

1

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Yi Sun

2

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Sebastien Michaud

3

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Yi Zheng

4

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Azra H Ligon

6

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Thomas Sander

7

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Bruce R Korf

8

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David J Harris

10

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Richard L Maas

12

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Bradley J Quade

13

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Andrew J Cole

14

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Max B Kelz

15

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Cynthia C Morton

American Journal of Human Genetics

16

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language of work or name

English

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publication date

April 2007

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published in

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volume

80

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issue

4

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page(s)

792-9

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cites work

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A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

7 April 2017

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Alternative splicing of the human diacylglycerol kinase delta gene generates two isoforms differing in their expression patterns and in regulatory functions

7 April 2017

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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

7 April 2017

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A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

7 April 2017

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Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol

7 April 2017

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7 April 2017

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A potassium channel mutation in neonatal human epilepsy

7 April 2017

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Mutations in EFHC1 cause juvenile myoclonic epilepsy

7 April 2017

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Activation of diacylglycerol kinase alpha is required for VEGF-induced angiogenic signaling in vitro

7 April 2017

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How mutations in the nAChRs can cause ADNFLE epilepsy

7 April 2017

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

7 April 2017

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Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

7 April 2017

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Properties and functions of diacylglycerol kinases

7 April 2017

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Genome search for susceptibility loci of common idiopathic generalised epilepsies

7 April 2017

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Molecular and functional characterization of a novel mouse transient receptor potential protein homologue TRP7. Ca(2+)-permeable cation channel that is constitutively activated and enhanced by stimulation of G protein-coupled receptor

7 April 2017

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Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

7 April 2017

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Vascular endothelial growth factor (VEGF) stimulates neurogenesis in vitro and in vivo

7 April 2017

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Diacylglycerol kinase delta regulates protein kinase C and epidermal growth factor receptor signaling.

7 April 2017

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Epidemiology of idiopathic generalized epilepsies

28 September 2017

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The diacylgylcerol-sensitive TRPC3/6/7 subfamily of cation channels: functional characterization and physiological relevance.

28 September 2017

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Genetics of idiopathic epilepsies

28 September 2017

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Stimulation of angiogenesis by Ras proteins

28 September 2017

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Blood vessels and nerves: common signals, pathways and diseases

28 September 2017

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Diacylglycerol kinase epsilon regulates seizure susceptibility and long-term potentiation through arachidonoyl- inositol lipid signaling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852716

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852716

Group I metabotropic glutamate receptors: implications for brain diseases

28 September 2017

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Phosphoinositide signaling in human brain

28 September 2017

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Clinical phenotype associated with terminal 2q37 deletion.

28 September 2017

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Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

28 September 2017

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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

28 September 2017

1 reference

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Small terminal deletions of the long arm of chromosome 2: two new cases.

30 May 2018

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Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice.

30 May 2018

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Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.

28 November 2018

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The Drosophila easily shocked gene: a mutation in a phospholipid synthetic pathway causes seizure, neuronal failure, and paralysis.

28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852716

Terminal 2q deletion--a recognizable syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17357084

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17357084