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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Overview of attention for article published in Orphanet Journal of Rare Diseases, May 2013
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Title
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Published in
Orphanet Journal of Rare Diseases, May 2013
DOI 10.1186/1750-1172-8-80
Pubmed ID
Abstract

Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development. Several genes have been associated with EOEE and a molecular diagnosis workup is challenging since similar phenotypes are associated with mutations in different genes and since mutations in one given gene can be associated with very different phenotypes. Recently, de novo mutations in KCNQ2, have been found in about 10% of EOEE patients. Our objective was to confirm that KCNQ2 was an important gene to include in the diagnosis workup of EOEEs and to fully describe the clinical and EEG features of mutated patients.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 53 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 21%
Student > Ph. D. Student 9 17%
Other 8 15%
Student > Doctoral Student 6 11%
Student > Master 5 9%
Other 13 25%
Unknown 1 2%
Readers by discipline Count As %
Medicine and Dentistry 20 38%
Neuroscience 8 15%
Biochemistry, Genetics and Molecular Biology 6 11%
Agricultural and Biological Sciences 4 8%
Psychology 4 8%
Other 6 11%
Unknown 5 9%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 21 May 2013.
All research outputs
#5,293,555
of 6,228,985 outputs
Outputs from Orphanet Journal of Rare Diseases
#872
of 957 outputs
Outputs of similar age
#81,754
of 99,464 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#43
of 43 outputs
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So far Altmetric has tracked 957 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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