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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Overview of attention for article published in Genetics in Medicine, September 2018
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Title
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Published in
Genetics in Medicine, September 2018
DOI 10.1038/s41436-018-0268-1
Pubmed ID
Authors

Cyril Mignot, Aoife C. McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnerias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth J. Donner, Bénédicte Duban-Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin-Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminska, Boris Keren, Marije Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanovic, Julia Métreau, Jacques L. Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie-Laure Moutard, Arnold Munnich, Xilma R. Ortiz-Gonzalez, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quelin, Alyssa R. Rosen, Joelle Roume, Elsa Rossignol, Marleen E. H. Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel P. Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby Koeleman, Rikke S. Møller, Gaetan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

Abstract

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants. We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms. IQSEC2 pathogenic variants mainly led to premature truncation and were scattered throughout the longest brain-specific isoform, encoding the synaptic IQSEC2/BRAG1 protein. Variants occurred de novo in females but were either de novo (2/3) or inherited (1/3) in males, with missense variants being predominantly inherited. Developmental delay and intellectual disability were overall more severe in males than in females. Likewise, seizures were more frequently observed and intractable, and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intellectual disability or resistance to antiepileptic treatments. This study provides a comprehensive overview of IQSEC2-related encephalopathy in males and females, and suggests that an accurate dosage of IQSEC2 at the synapse is crucial during normal brain development.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 69 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 69 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 10 14%
Researcher 9 13%
Student > Master 6 9%
Professor 6 9%
Student > Bachelor 5 7%
Other 12 17%
Unknown 21 30%
Readers by discipline Count As %
Medicine and Dentistry 17 25%
Neuroscience 14 20%
Biochemistry, Genetics and Molecular Biology 9 13%
Agricultural and Biological Sciences 3 4%
Psychology 1 1%
Other 1 1%
Unknown 24 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 05 October 2019.
All research outputs
#14,920,631
of 25,385,509 outputs
Outputs from Genetics in Medicine
#2,384
of 2,945 outputs
Outputs of similar age
#178,325
of 347,925 outputs
Outputs of similar age from Genetics in Medicine
#69
of 84 outputs
Altmetric has tracked 25,385,509 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,945 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one is in the 18th percentile – i.e., 18% 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 347,925 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 84 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.