| Title |
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)
|
|---|---|
| Published in |
Metabolic Brain Disease, February 2018
|
| DOI | 10.1007/s11011-018-0200-z |
| Pubmed ID | |
| Authors |
Tasneem Obeid, Abdul Rezzak Hamzeh, Fatima Saif, Pratibha Nair, Madiha Mohamed, Mahmoud Taleb Al-Ali, Fatma Bastaki |
| Abstract |
The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this study, we report on a novel homozygous mutation in UNC80 in a Palestinian-Emirati patient suffering infantile hypotonia with psychomotor retardation and characteristic facies. This mutation was detected by whole exome sequencing and confirmed using Sanger sequencing in the patient-parents trio. Numerous elements in the patient's phenotype were in agreement with the few reported cases of UNC80 mutations; however there are some notable differences. We present comprehensive clinical and molecular accounts of this mutation in addition to a full review of previously reported patients of UNC80 mutations. |
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 % |
|---|---|---|
| United Arab Emirates | 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 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 27% |
| Student > Bachelor | 2 | 13% |
| Librarian | 1 | 7% |
| Other | 1 | 7% |
| Student > Master | 1 | 7% |
| Other | 1 | 7% |
| Unknown | 5 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 27% |
| Agricultural and Biological Sciences | 2 | 13% |
| Neuroscience | 2 | 13% |
| Psychology | 1 | 7% |
| Unknown | 6 | 40% |
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 20 May 2018.
All research outputs
#18,349,015
of 23,577,654 outputs
Outputs from Metabolic Brain Disease
#689
of 1,092 outputs
Outputs of similar age
#317,157
of 447,870 outputs
Outputs of similar age from Metabolic Brain Disease
#22
of 27 outputs
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