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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Overview of attention for article published in Nature Communications, September 2015
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (96th percentile)
  • Good Attention Score compared to outputs of the same age and source (78th percentile)

Mentioned by

news
4 news outlets
blogs
4 blogs
twitter
12 X users
facebook
2 Facebook pages
video
1 YouTube creator

Citations

dimensions_citation
147 Dimensions

Readers on

mendeley
173 Mendeley
citeulike
2 CiteULike
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Title
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
Published in
Nature Communications, September 2015
DOI 10.1038/ncomms9038
Pubmed ID
Authors

Tommy Stödberg, Amy McTague, Arnaud J. Ruiz, Hiromi Hirata, Juan Zhen, Philip Long, Irene Farabella, Esther Meyer, Atsuo Kawahara, Grace Vassallo, Stavros M. Stivaros, Magnus K. Bjursell, Henrik Stranneheim, Stephanie Tigerschiöld, Bengt Persson, Iftikhar Bangash, Krishna Das, Deborah Hughes, Nicole Lesko, Joakim Lundeberg, Rod C. Scott, Annapurna Poduri, Ingrid E. Scheffer, Holly Smith, Paul Gissen, Stephanie Schorge, Maarten E. A. Reith, Maya Topf, Dimitri M. Kullmann, Robert J. Harvey, Anna Wedell, Manju A. Kurian

Abstract

The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition by maintaining a hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicated in human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have been described. Here we show recessive loss-of-function SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epilepsy of infancy with migrating focal seizures (EIMFS). Decreased KCC2 surface expression, reduced protein glycosylation and impaired chloride extrusion contribute to loss of KCC2 activity, thereby impairing normal synaptic inhibition and promoting neuronal excitability in this early-onset epileptic encephalopathy.

X Demographics

X Demographics

The data shown below were collected from the profiles of 12 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 173 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 3 2%
Finland 2 1%
Germany 1 <1%
Canada 1 <1%
Japan 1 <1%
Unknown 165 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 34 20%
Student > Ph. D. Student 26 15%
Student > Master 16 9%
Student > Bachelor 14 8%
Other 13 8%
Other 30 17%
Unknown 40 23%
Readers by discipline Count As %
Neuroscience 36 21%
Agricultural and Biological Sciences 33 19%
Medicine and Dentistry 23 13%
Biochemistry, Genetics and Molecular Biology 20 12%
Pharmacology, Toxicology and Pharmaceutical Science 5 3%
Other 8 5%
Unknown 48 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 63. 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 27 July 2017.
All research outputs
#576,666
of 22,826,360 outputs
Outputs from Nature Communications
#10,161
of 47,010 outputs
Outputs of similar age
#8,393
of 266,946 outputs
Outputs of similar age from Nature Communications
#165
of 767 outputs
Altmetric has tracked 22,826,360 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 47,010 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 55.7. This one has done well, scoring higher than 78% 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 266,946 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 96% of its contemporaries.
We're also able to compare this research output to 767 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.