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PCDH19‐related epilepsy is associated with a broad neurodevelopmental spectrum

Overview of attention for article published in Epilepsia, January 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (76th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (53rd percentile)

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Title
PCDH19‐related epilepsy is associated with a broad neurodevelopmental spectrum
Published in
Epilepsia, January 2018
DOI 10.1111/epi.14003
Pubmed ID
Authors

Lacey Smith, Nilika Singhal, Christelle M. El Achkar, Gessica Truglio, Beth Rosen Sheidley, Joseph Sullivan, Annapurna Poduri

Abstract

To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neurobehavioral, and sleep-related features. We evaluated variants for pathogenicity based on previous reports, population databases, and in silico predictions, and included individuals with pathogenic or potentially pathogenic variants. We performed a retrospective analysis of medical records and administered a targeted questionnaire to characterize current or past features in probands and genotype-positive family members. We included 38 individuals with pathogenic or potentially pathogenic variants in PCDH19: 21 de novo, 5 maternally inherited, 7 paternally inherited, and 5 unknown. All 38 had epilepsy; seizure burden varied, but typical features of clustering of seizures and association with fever were present. Thirty individuals had intellectual disability (ID), with a wide range of severity reported; notably, 8/38 (22%) had average intellect. Behavioral and sleep dysregulation were prominent, in 29/38 (76%) and 20/38 (53%), respectively. Autistic features were present in 22/38 (58%), of whom 12 had a formal diagnosis of autism spectrum disorder. We had additional data from 5 genotype-positive mothers, all with average intellect and 3 with epilepsy, and from 1 genotype-positive father. Our series represents a robust cohort with carefully curated PCDH19 variants. We observed seizures as a core feature with a range of seizure types and severity. Whereas the majority of individuals had ID, we highlight the possibility of average intellect in the setting of PCDH19-related epilepsy. We also note the high prevalence and severity of neurobehavioral phenotypes associated with likely pathogenic variants in PCDH19. Sleep dysregulation was also a major area of concern. Our data emphasize the importance of appropriate referrals for formal neuropsychological evaluations as well as the need for formal prospective studies to characterize the PCDH19-related neurodevelopmental syndrome in children and their genotype-positive parents.

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

Geographical breakdown

Country Count As %
Unknown 126 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 15 12%
Student > Bachelor 14 11%
Student > Ph. D. Student 12 10%
Student > Master 12 10%
Student > Postgraduate 10 8%
Other 24 19%
Unknown 39 31%
Readers by discipline Count As %
Medicine and Dentistry 20 16%
Neuroscience 18 14%
Psychology 17 13%
Biochemistry, Genetics and Molecular Biology 11 9%
Nursing and Health Professions 8 6%
Other 12 10%
Unknown 40 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 7. 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 02 February 2018.
All research outputs
#4,947,674
of 24,484,013 outputs
Outputs from Epilepsia
#1,725
of 5,693 outputs
Outputs of similar age
#104,578
of 450,104 outputs
Outputs of similar age from Epilepsia
#27
of 58 outputs
Altmetric has tracked 24,484,013 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,693 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.4. This one has gotten more attention than average, scoring higher than 69% 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 450,104 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 76% of its contemporaries.
We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 53% of its contemporaries.