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PCDH19 -related epilepsy in two mosaic male patients

Overview of attention for article published in Epilepsia (Series 4), January 2016
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (88th percentile)
  • High Attention Score compared to outputs of the same age and source (89th percentile)

Mentioned by

blogs
1 blog
twitter
4 tweeters
wikipedia
1 Wikipedia page

Citations

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36 Dimensions

Readers on

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50 Mendeley
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Title
PCDH19 -related epilepsy in two mosaic male patients
Published in
Epilepsia (Series 4), January 2016
DOI 10.1111/epi.13295
Pubmed ID
Authors

Alessandra Terracciano, Marina Trivisano, Raffaella Cusmai, Luca De Palma, Lucia Fusco, Claudia Compagnucci, Enrico Bertini, Federico Vigevano, Nicola Specchio

Abstract

PCDH19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures. The PCDH19 gene (Xq22.1) has an unusual X-linked inheritance with a selective involvement for female subjects. A cellular interference mechanism has been hypothesized and male patients can manifest epilepsy only in the case of a mosaicism. So far about 100 female patients, and only one symptomatic male have been described. Using targeted next generation sequencing (NGS) approach we found a PCDH19 point mutation in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. The system allowed us to verify that the two c.1352 C>T; p.(Pro451Leu) and c.918C>G; p.(Tyr306*) variants occurred in mosaic status. Mutations were confirmed by Sanger sequencing and quantified by real-time polymerase chain reaction (PCR). Up to now, the traditional molecular screening for PCDH19-related epilepsy has been targeted to all females with early onset epilepsy with or without cognitive impairment. Male patients were generally excluded. We describe for the first time two mosaic PCDH19 point mutations in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. This finding opens new opportunities for the molecular diagnoses in patients with a peculiar type of epilepsy that remains undiagnosed in male patients.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 50 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
France 1 2%
Australia 1 2%
Unknown 48 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 12 24%
Researcher 11 22%
Student > Master 5 10%
Other 4 8%
Student > Postgraduate 4 8%
Other 8 16%
Unknown 6 12%
Readers by discipline Count As %
Medicine and Dentistry 15 30%
Neuroscience 11 22%
Agricultural and Biological Sciences 6 12%
Biochemistry, Genetics and Molecular Biology 4 8%
Psychology 2 4%
Other 6 12%
Unknown 6 12%

Attention Score in Context

This research output has an Altmetric Attention Score of 12. 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 12 March 2018.
All research outputs
#1,435,787
of 14,370,331 outputs
Outputs from Epilepsia (Series 4)
#386
of 4,030 outputs
Outputs of similar age
#41,732
of 366,286 outputs
Outputs of similar age from Epilepsia (Series 4)
#7
of 68 outputs
Altmetric has tracked 14,370,331 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,030 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 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 366,286 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 88% of its contemporaries.
We're also able to compare this research output to 68 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.