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PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Overview of attention for article published in Annals of Clinical and Translational Neurology, July 2015
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (77th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (62nd percentile)

Mentioned by

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6 X users
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1 Wikipedia page

Citations

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21 Dimensions

Readers on

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36 Mendeley
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1 CiteULike
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Title
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
Published in
Annals of Clinical and Translational Neurology, July 2015
DOI 10.1002/acn3.224
Pubmed ID
Authors

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard J H Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid, Steven Petrou, Melanie Bahlo, Samuel F Berkovic

Abstract

Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholine receptor subunit mutations. We report a novel autosomal recessive phenotype in a single family and identify the causative gene. Whole exome sequencing data was used to map the family, thereby narrowing exome search space, and then to identify the mutation. Linkage analysis using exome sequence data from two affected and two unaffected subjects showed homozygous linkage peaks on chromosomes 7, 8, 13, and 14 with maximum LOD scores between 1.5 and 1.93. Exome variant filtering under these peaks revealed that the affected siblings were homozygous for a novel splice site mutation (c.93+2T>C) in the PRIMA1 gene on chromosome 14. No additional PRIMA1 mutations were found in 300 other NFLE cases. The c.93+2T>C mutation was shown to lead to skipping of the first coding exon of the PRIMA1 mRNA using a minigene system. PRIMA1 is a transmembrane protein that anchors acetylcholinesterase (AChE), an enzyme hydrolyzing acetycholine, to membrane rafts of neurons. PRiMA knockout mice have reduction of AChE and accumulation of acetylcholine at the synapse; our minigene analysis suggests that the c.93+2T>C mutation leads to knockout of PRIMA1. Mutations with gain of function effects in acetylcholine receptor subunits cause autosomal dominant NFLE. Thus, enhanced cholinergic responses are the likely cause of the severe NFLE and intellectual disability segregating in this family, representing the first recessive case to be reported and the first PRIMA1 mutation implicated in disease.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 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 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 36 100%

Demographic breakdown

Readers by professional status Count As %
Other 5 14%
Researcher 5 14%
Student > Ph. D. Student 4 11%
Professor > Associate Professor 4 11%
Student > Bachelor 3 8%
Other 9 25%
Unknown 6 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 17%
Neuroscience 6 17%
Biochemistry, Genetics and Molecular Biology 5 14%
Medicine and Dentistry 4 11%
Nursing and Health Professions 2 6%
Other 5 14%
Unknown 8 22%
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 26 November 2016.
All research outputs
#5,239,707
of 25,371,288 outputs
Outputs from Annals of Clinical and Translational Neurology
#679
of 1,461 outputs
Outputs of similar age
#60,566
of 276,888 outputs
Outputs of similar age from Annals of Clinical and Translational Neurology
#6
of 16 outputs
Altmetric has tracked 25,371,288 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 1,461 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.5. This one has gotten more attention than average, scoring higher than 53% 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 276,888 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 77% of its contemporaries.
We're also able to compare this research output to 16 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 62% of its contemporaries.