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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Overview of attention for article published in Nature Genetics, January 1998
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (88th percentile)
  • Average Attention Score compared to outputs of the same age and source

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40 patents
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2 Wikipedia pages

Citations

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765 Dimensions

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128 Mendeley
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1 CiteULike
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Title
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
Published in
Nature Genetics, January 1998
DOI 10.1038/ng0198-53
Pubmed ID
Authors

Carole Charlier, Nanda A. Singh, Stephen G. Ryan, Tracey B. Lewis, Bonnie E. Reus, Robin J. Leach, Mark Leppert

Abstract

Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-dominant mode of inheritance: the benign familial neonatal convulsions (BFNC; refs 2,3). Genetic heterogeneity of BFNC has been observed. Two loci, EBN1 and EBN2, have been mapped by linkage analysis to chromosome 20q13 (refs 5,6) and chromosome 8q24 (refs 7,8), respectively. By positional cloning, we recently identified the gene for EBN1 as KCNQ2 (ref. 9). This gene, a voltage-gated potassium channel, based on homology, is a member of the KQT-like family. Here we describe an additional member, KCNQ3. We mapped this new gene to chromosome 8, between markers D8S256 and D8S284 on a radiation hybrid map. We screened KCNQ3 for mutations in the large BFNC family previously linked to chromosome 8q24 in the same marker interval. We found a missense mutation in the critical pore region in perfect co-segregation with the BFNC phenotype. The same conserved amino acid is also mutated in KVLQT1 (KCNQ1) in an LQT patient. KCNQ2, KCNQ3 and undiscovered genes of the same family of K+ channels are strong candidates for other IGEs.

Mendeley readers

The data shown below were compiled from readership statistics for 128 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 2%
Finland 1 <1%
Australia 1 <1%
Romania 1 <1%
Japan 1 <1%
Italy 1 <1%
Unknown 120 94%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 29 23%
Researcher 25 20%
Student > Bachelor 13 10%
Professor > Associate Professor 13 10%
Student > Master 8 6%
Other 24 19%
Unknown 16 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 38 30%
Medicine and Dentistry 23 18%
Neuroscience 20 16%
Biochemistry, Genetics and Molecular Biology 13 10%
Chemistry 5 4%
Other 9 7%
Unknown 20 16%

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 18 February 2020.
All research outputs
#1,812,410
of 17,367,552 outputs
Outputs from Nature Genetics
#2,501
of 6,639 outputs
Outputs of similar age
#32,602
of 295,123 outputs
Outputs of similar age from Nature Genetics
#42
of 64 outputs
Altmetric has tracked 17,367,552 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,639 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 35.5. This one has gotten more attention than average, scoring higher than 60% 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 295,123 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 64 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.