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Mutations in GABRB3

Overview of attention for article published in Neurology, January 2017
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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 (93rd percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

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1 blog
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4 Facebook pages
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1 research highlight platform

Citations

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89 Dimensions

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90 Mendeley
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1 CiteULike
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Title
Mutations in GABRB3
Published in
Neurology, January 2017
DOI 10.1212/wnl.0000000000003565
Pubmed ID
Authors

Rikke S Møller, Thomas V Wuttke, Ingo Helbig, Carla Marini, Katrine M Johannesen, Eva H Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence L Francois, Gaetan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Marielle Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T Myers, Line H G Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, Konstantin Mukhin, Hans Holthausen, Koen L van Gassen, Hans A Dahl, Niels Tommerup, Heather C Mefford, Guido Rubboli, Renzo Guerrini, Johannes R Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic

Abstract

To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs. We identified 22 patients with heterozygous mutations in GABRB3, including 3 probands from multiplex families. The phenotypic spectrum of the mutation carriers ranged from simple febrile seizures, genetic epilepsies with febrile seizures plus, and epilepsy with myoclonic-atonic seizures to West syndrome and other types of severe, early-onset epileptic encephalopathies. Electrophysiologic analysis of 7 mutations in Xenopus laevis oocytes, using coexpression of wild-type or mutant β3, together with α5 and γ2s subunits and an automated 2-microelectrode voltage-clamp system, revealed reduced GABA-induced current amplitudes or GABA sensitivity for 5 of 7 mutations. Our results indicate that GABRB3 mutations are associated with a broad phenotypic spectrum of epilepsies and that reduced receptor function causing GABAergic disinhibition represents the relevant disease mechanism.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 90 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Austria 1 1%
Unknown 89 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 15 17%
Student > Ph. D. Student 14 16%
Student > Doctoral Student 13 14%
Student > Bachelor 10 11%
Student > Postgraduate 6 7%
Other 18 20%
Unknown 14 16%
Readers by discipline Count As %
Medicine and Dentistry 30 33%
Neuroscience 12 13%
Biochemistry, Genetics and Molecular Biology 10 11%
Pharmacology, Toxicology and Pharmaceutical Science 4 4%
Psychology 4 4%
Other 11 12%
Unknown 19 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 29. 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 10 March 2018.
All research outputs
#1,324,802
of 25,377,790 outputs
Outputs from Neurology
#2,311
of 21,010 outputs
Outputs of similar age
#27,236
of 421,999 outputs
Outputs of similar age from Neurology
#49
of 261 outputs
Altmetric has tracked 25,377,790 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 21,010 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 23.7. This one has done well, scoring higher than 88% 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 421,999 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 93% of its contemporaries.
We're also able to compare this research output to 261 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.