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Mendeley readers
Attention Score in Context
| Title |
Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family
|
|---|---|
| Published in |
BMC Medical Genomics, March 2016
|
| DOI | 10.1186/s12881-016-0281-7 |
| Pubmed ID | |
| Authors |
Axel Weber, Jonas Kreth, Ulrich Müller |
| Abstract |
Mutations in PRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC). A previously not recognized intronic PRRT2 mutation (c.880-35G > A; p.S294Lfs*29) was found in an 18 month old girl with IC and in her mother with classical presentation of PKD. The mutation results in a novel splice acceptor site in intron 2 of PRRT2. Due to frameshift and a subsequent premature stop-codon the resulting transcript appears to render the PRRT2 protein non/dysfunctional and is the likely cause of disease in this family. Our findings expand the mutational spectrum of this disease. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 4 | 27% |
| Student > Ph. D. Student | 3 | 20% |
| Student > Doctoral Student | 2 | 13% |
| Professor > Associate Professor | 2 | 13% |
| Student > Bachelor | 1 | 7% |
| Other | 2 | 13% |
| Unknown | 1 | 7% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 47% |
| Biochemistry, Genetics and Molecular Biology | 3 | 20% |
| Neuroscience | 2 | 13% |
| Psychology | 1 | 7% |
| Unknown | 2 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. 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 04 March 2016.
All research outputs
#3,709,974
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#238
of 2,444 outputs
Outputs of similar age
#56,616
of 312,899 outputs
Outputs of similar age from BMC Medical Genomics
#6
of 38 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 85th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done particularly well, scoring higher than 90% 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 312,899 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 81% of its contemporaries.
We're also able to compare this research output to 38 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 84% of its contemporaries.