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Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter–Tönz syndrome

Overview of attention for article published in European Journal of Medical Genetics, March 2012
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Mentioned by

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2 Wikipedia pages

Citations

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19 Dimensions

Readers on

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33 Mendeley
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Title
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter–Tönz syndrome
Published in
European Journal of Medical Genetics, March 2012
DOI 10.1016/j.ejmg.2012.02.008
Pubmed ID
Authors

Anna Schossig, Nicole I. Wolf, Ines Kapferer, Alfried Kohlschütter, Johannes Zschocke

Abstract

Kohlschütter-Tönz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth. The first affected family was described in 1974, and 25 patients in 11 families have been reported until now. Inheritance is autosomal recessive. Epilepsy usually starts within the first or second year of life. All affected individuals show a psychomotor regression after onset of epilepsy or a developmental delay from birth on. Clinical course and disease severity are variable even within families. There are no known biochemical or other diagnostic markers of the condition. Very recently it has been shown that the condition is caused by mutations in the gene ROGDI but molecular data have only been reported for three families. It remains to be seen whether Kohlschütter-Tönz syndrome has the same molecular basis in all affected individuals.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 3%
Unknown 32 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 5 15%
Student > Bachelor 4 12%
Researcher 3 9%
Student > Doctoral Student 2 6%
Other 2 6%
Other 7 21%
Unknown 10 30%
Readers by discipline Count As %
Medicine and Dentistry 12 36%
Agricultural and Biological Sciences 3 9%
Biochemistry, Genetics and Molecular Biology 2 6%
Pharmacology, Toxicology and Pharmaceutical Science 2 6%
Arts and Humanities 1 3%
Other 2 6%
Unknown 11 33%
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 08 May 2022.
All research outputs
#8,534,976
of 25,373,627 outputs
Outputs from European Journal of Medical Genetics
#237
of 1,078 outputs
Outputs of similar age
#57,681
of 172,587 outputs
Outputs of similar age from European Journal of Medical Genetics
#3
of 8 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,078 research outputs from this source. They receive a mean Attention Score of 3.1. This one has gotten more attention than average, scoring higher than 64% 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 172,587 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 5 of them.