| Title |
Mutations of PTPN23 in developmental and epileptic encephalopathy
|
|---|---|
| Published in |
Human Genetics, October 2017
|
| DOI | 10.1007/s00439-017-1850-3 |
| Pubmed ID | |
| Authors |
Nadine Sowada, Mais Omar Hashem, Rüstem Yilmaz, Muddathir Hamad, Naseebullah Kakar, Holger Thiele, Stefan T. Arold, Harald Bode, Fowzan S. Alkuraya, Guntram Borck |
| Abstract |
Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely deleterious biallelic variants in PTPN23. The phenotype is characterized by early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death. PTPN23 encodes a tyrosine phosphatase with strong brain expression, and its knockout in mouse is embryonically lethal. Structural modeling supports a deleterious effect of the identified alleles. Our data suggest that PTPN23 mutations cause a rare severe form of autosomal-recessive DEE in humans, a finding that requires confirmation. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 22 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 6 | 27% |
| Student > Ph. D. Student | 5 | 23% |
| Researcher | 3 | 14% |
| Student > Bachelor | 2 | 9% |
| Professor | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 4 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 18% |
| Agricultural and Biological Sciences | 3 | 14% |
| Nursing and Health Professions | 2 | 9% |
| Neuroscience | 2 | 9% |
| Medicine and Dentistry | 2 | 9% |
| Other | 5 | 23% |
| Unknown | 4 | 18% |
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 06 December 2017.
All research outputs
#18,577,751
of 23,009,818 outputs
Outputs from Human Genetics
#2,705
of 2,959 outputs
Outputs of similar age
#251,928
of 328,931 outputs
Outputs of similar age from Human Genetics
#12
of 13 outputs
Altmetric has tracked 23,009,818 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,959 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one is in the 4th percentile – i.e., 4% 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 328,931 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.