| Title |
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome
|
|---|---|
| Published in |
Neuropsychiatric Disease and Treatment, March 2018
|
| DOI | 10.2147/ndt.s153511 |
| Pubmed ID | |
| Authors |
Willem Verhoeven, Jos Egger, Emmy Räkers, Arjen van Erkelens, Rolph Pfundt, Marjolein H Willemsen |
| Abstract |
Theadditional sex combs like 3gene is considered to be causative for the rare Bainbridge-Ropers syndrome (BRPS), which is characterized by severe intellectual disability, neonatal hypotonia, nearly absent development of speech and language as well as several facial dysmorphisms. Apart from disruptive autistiform behaviors, sleep disturbances and epileptic phenomena may be present. Here, a 47-year-old severely intellectually disabled male is described in whom exome sequencing disclosed a novel heterozygous frameshift mutation in theASXL3gene leading to a premature stopcodon in the last part of the last exon. Mutations in this very end 3' of the gene have not been reported before in BRPS. The phenotypical presentation of the patient including partially therapy-resistant epilepsy starting in later adulthood shows overlap with BRPS, and it was therefore concluded that the phenotype is likely explained by the identified mutation inASXL3. |
X Demographics
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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 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 35 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 6 | 17% |
| Researcher | 5 | 14% |
| Student > Doctoral Student | 4 | 11% |
| Student > Bachelor | 3 | 9% |
| Other | 2 | 6% |
| Other | 6 | 17% |
| Unknown | 9 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Psychology | 8 | 23% |
| Medicine and Dentistry | 6 | 17% |
| Biochemistry, Genetics and Molecular Biology | 3 | 9% |
| Neuroscience | 3 | 9% |
| Nursing and Health Professions | 2 | 6% |
| Other | 4 | 11% |
| Unknown | 9 | 26% |
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 10 April 2018.
All research outputs
#19,951,180
of 25,382,440 outputs
Outputs from Neuropsychiatric Disease and Treatment
#2,192
of 3,131 outputs
Outputs of similar age
#253,777
of 344,853 outputs
Outputs of similar age from Neuropsychiatric Disease and Treatment
#45
of 76 outputs
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