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PRRT2 Mutations are the major cause of benign familial infantile seizures

Overview of attention for article published in Human Mutation, June 2012
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2 tweeters

Citations

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80 Dimensions

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55 Mendeley
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1 CiteULike
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Title
PRRT2 Mutations are the major cause of benign familial infantile seizures
Published in
Human Mutation, June 2012
DOI 10.1002/humu.22126
Pubmed ID
Authors

Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, Knut Brockmann, Giuseppe Capovilla, Bernardo Dalla Bernardina, Yukio Fukuyama, Georg F. Hoffmann, Karin Jurkat-Rott, Anna-Kaisa Anttonen, Gerhard Kurlemann, Anna-Elina Lehesjoki, Frank Lehmann-Horn, Massimo Mastrangelo, Ulrike Mause, Stephan Müller, Bernd Neubauer, Burkhard Püst, Dietz Rating, Angela Robbiano, Susanne Ruf, Christopher Schroeder, Andreas Seidel, Nicola Specchio, Ulrich Stephani, Pasquale Striano, Jens Teichler, Dilsad Turkdogan, Federico Vigevano, Maurizio Viri, Peter Bauer, Federico Zara, Holger Lerche, Yvonne G. Weber

Abstract

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 55 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 2%
Unknown 54 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 10 18%
Researcher 9 16%
Other 7 13%
Student > Master 5 9%
Student > Doctoral Student 4 7%
Other 15 27%
Unknown 5 9%
Readers by discipline Count As %
Medicine and Dentistry 21 38%
Agricultural and Biological Sciences 12 22%
Neuroscience 7 13%
Biochemistry, Genetics and Molecular Biology 5 9%
Nursing and Health Professions 1 2%
Other 1 2%
Unknown 8 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 May 2012.
All research outputs
#7,611,510
of 12,181,787 outputs
Outputs from Human Mutation
#1,618
of 2,115 outputs
Outputs of similar age
#63,310
of 111,430 outputs
Outputs of similar age from Human Mutation
#23
of 47 outputs
Altmetric has tracked 12,181,787 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,115 research outputs from this source. They receive a mean Attention Score of 4.0. This one is in the 17th percentile – i.e., 17% of its peers scored the same or lower than it.
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 111,430 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 47 others from the same source and published within six weeks on either side of this one. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.