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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Overview of attention for article published in Epilepsia (Series 4), March 2015
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (74th percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

Mentioned by

twitter
9 tweeters
facebook
2 Facebook pages

Citations

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123 Dimensions

Readers on

mendeley
132 Mendeley
Title
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
Published in
Epilepsia (Series 4), March 2015
DOI 10.1111/epi.12954
Pubmed ID
Authors

Saadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, Stacy Hewson, David Callen, Elizabeth J. Donner, Cecil D. Hahn, Peter Kannu, Jeff Kobayashi, Berge A. Minassian, Mahendranath Moharir, Komudi Siriwardena, Shelly K. Weiss, Rosanna Weksberg, O. Carter Snead

Abstract

Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic. We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics Clinic. Electronic patient charts were reviewed for clinical features, neuroimaging, biochemical investigations, and molecular genetic investigations including targeted next-generation sequencing of epileptic encephalopathy genes. Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine-5-phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes. Forty-five percent of patients obtained a genetic diagnosis by targeted next-generation sequencing epileptic encephalopathy panels. It is notable that 4.5% of patients had a treatable inherited metabolic disease. To the best of our knowledge, this is the first study to combine inherited metabolic disorders and other genetic causes of epileptic encephalopathy. Targeted next-generation sequencing panels increased the genetic diagnostic yield from <10% to >25% in patients with epileptic encephalopathy.

Twitter Demographics

The data shown below were collected from the profiles of 9 tweeters 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 132 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Hong Kong 1 <1%
Unknown 131 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 25 19%
Student > Ph. D. Student 24 18%
Other 15 11%
Student > Bachelor 14 11%
Student > Doctoral Student 11 8%
Other 31 23%
Unknown 12 9%
Readers by discipline Count As %
Medicine and Dentistry 46 35%
Agricultural and Biological Sciences 22 17%
Biochemistry, Genetics and Molecular Biology 19 14%
Neuroscience 13 10%
Chemistry 4 3%
Other 7 5%
Unknown 21 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 24 October 2016.
All research outputs
#3,651,513
of 14,345,411 outputs
Outputs from Epilepsia (Series 4)
#1,176
of 4,025 outputs
Outputs of similar age
#56,532
of 223,464 outputs
Outputs of similar age from Epilepsia (Series 4)
#14
of 74 outputs
Altmetric has tracked 14,345,411 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 4,025 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one has gotten more attention than average, scoring higher than 70% 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 223,464 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 74 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.