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Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms

Overview of attention for article published in PLoS ONE, March 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)
  • High Attention Score compared to outputs of the same age and source (82nd percentile)

Mentioned by

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2 news outlets
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1 tweeter

Citations

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5 Dimensions

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31 Mendeley
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Title
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms
Published in
PLoS ONE, March 2018
DOI 10.1371/journal.pone.0193599
Pubmed ID
Authors

Anne T. Berg, Samya Chakravorty, Sookyong Koh, Zachary M. Grinspan, Renée A. Shellhaas, Russell P. Saneto, Elaine C. Wirrell, Jason Coryell, Catherine J. Chu, John R. Mytinger, William D. Gaillard, Ignacio Valencia, Kelly G. Knupp, Tobias Loddenkemper, Joseph E. Sullivan, Annapurna Poduri, John J. Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B. Dobyns, Madhuri Hegde

Abstract

Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical, etiological, and molecular-genetic factors preferentially predisposing to spasms. We compared ages, clinical etiologies, and associated-genes between spasms and non-spasms groups in a multicenter cohort of 509 infants (<12months) with newly-diagnosed epilepsy. Gene ontology and pathway enrichment analysis of clinical laboratory-confirmed pathogenic variant-harboring genes was performed. Pathways, functions, and cellular compartments between spasms and non-spasms groups were compared. Spasms onset age was similar in infants initially presenting with spasms (6.1 months) versus developing spasms as a later seizure type (6.9 months) but lower in the non-spasms group (4.7 months, p<0.0001). This pattern held across most etiological categories. Gestational age negatively correlated with spasms onset-age (r = -0.29, p<0.0001) but not with non-spasm seizure age. Spasms were significantly preferentially associated with broad developmental and regulatory pathways, whereas motor functions and pathways including cellular response to stimuli, cell motility and ion transport were preferentially enriched in non-spasms. Neuronal cell-body organelles preferentially associated with spasms, while, axonal, dendritic, and synaptic regions preferentially associated with other seizures. Spasms are a clinically and biologically distinct infantile seizure type. Comparative clinical-epidemiological analyses identify the middle of the first year as the time of peak expression regardless of etiology. The inverse association with gestational age suggests the preterm brain must reach a certain post-conceptional, not just chronological, neurodevelopmental stage before spasms manifest. Clear differences exist between the biological pathways leading to spasms versus other seizure types and suggest that spasms result from dysregulation of multiple developmental pathways and involve different cellular components than other seizure types. This deeper level of understanding may guide investigations into pathways most critical to target in future precision medicine efforts.

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 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 31 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 4 13%
Student > Doctoral Student 4 13%
Researcher 4 13%
Unspecified 3 10%
Other 3 10%
Other 13 42%
Readers by discipline Count As %
Medicine and Dentistry 15 48%
Biochemistry, Genetics and Molecular Biology 6 19%
Unspecified 5 16%
Nursing and Health Professions 3 10%
Neuroscience 1 3%
Other 1 3%

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 19 March 2018.
All research outputs
#1,007,420
of 12,673,944 outputs
Outputs from PLoS ONE
#17,275
of 138,054 outputs
Outputs of similar age
#39,855
of 273,306 outputs
Outputs of similar age from PLoS ONE
#491
of 2,737 outputs
Altmetric has tracked 12,673,944 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 138,054 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.8. This one has done well, scoring higher than 87% 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 273,306 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 85% of its contemporaries.
We're also able to compare this research output to 2,737 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 82% of its contemporaries.