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Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations

Overview of attention for article published in Annals of Neurology, April 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (87th percentile)
  • Good Attention Score compared to outputs of the same age and source (70th percentile)

Mentioned by

news
1 news outlet
blogs
1 blog

Citations

dimensions_citation
197 Dimensions

Readers on

mendeley
140 Mendeley
citeulike
1 CiteULike
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Title
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Published in
Annals of Neurology, April 2014
DOI 10.1002/ana.24126
Pubmed ID
Authors

Ingrid E. Scheffer, Sarah E. Heron, Brigid M. Regan, Simone Mandelstam, Douglas E. Crompton, Bree L. Hodgson, Laura Licchetta, Federica Provini, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G. Ricos, Samuel F. Berkovic, Leanne M. Dibbens

Abstract

We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. Here we show that DEPDC5 mutations are associated with both lesional and nonlesional epilepsies, even within the same family. DEPDC5-associated malformations include bottom-of-the-sulcus dysplasia (3 members from 2 families), and focal band heterotopia (1 individual). DEPDC5 negatively regulates the mammalian target of rapamycin (mTOR) pathway, which plays a key role in cell growth. The clinicoradiological phenotypes associated with DEPDC5 mutations share features with the archetypal mTORopathy, tuberous sclerosis, raising the possibility of therapies targeted to this pathway. Ann Neurol 2014;75:782-787.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 140 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
France 2 1%
United States 1 <1%
Poland 1 <1%
Switzerland 1 <1%
Unknown 135 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 23 16%
Student > Ph. D. Student 18 13%
Other 16 11%
Student > Doctoral Student 11 8%
Student > Bachelor 8 6%
Other 33 24%
Unknown 31 22%
Readers by discipline Count As %
Medicine and Dentistry 36 26%
Neuroscience 19 14%
Agricultural and Biological Sciences 16 11%
Biochemistry, Genetics and Molecular Biology 15 11%
Pharmacology, Toxicology and Pharmaceutical Science 5 4%
Other 7 5%
Unknown 42 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 12. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 March 2019.
All research outputs
#2,738,516
of 24,577,646 outputs
Outputs from Annals of Neurology
#1,314
of 5,551 outputs
Outputs of similar age
#27,376
of 231,919 outputs
Outputs of similar age from Annals of Neurology
#16
of 57 outputs
Altmetric has tracked 24,577,646 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,551 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 15.5. This one has done well, scoring higher than 75% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 231,919 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 57 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.