Journal article
STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics
- Abstract:
-
BACKGROUND:De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with this genetic diagnosis. METHODS:To address this, we collected systematic phenotyping data encompassing neurological, developmental, and behavioural characteristics. Participants were 14 individuals with STXBP1-associated neurodevelopmental disorder, ascertained from cl...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Funding
Research Trainees Coordinating Centre
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Bibliographic Details
- Publisher:
- BioMed Central Publisher's website
- Journal:
- Journal of Neurodevelopmental Disorders Journal website
- Volume:
- 11
- Issue:
- 1
- Article number:
- 17
- Publication date:
- 2019-08-06
- Acceptance date:
- 2019-07-22
- DOI:
- EISSN:
-
1866-1955
- ISSN:
-
1866-1947
- Pmid:
-
31387522
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:1046234
- UUID:
-
uuid:03a47d02-e537-42f3-8776-8161f54690c9
- Local pid:
- pubs:1046234
- Source identifiers:
-
1046234
- Deposit date:
- 2019-10-21
Terms of use
- Copyright holder:
- O’Brien et al
- Copyright date:
- 2019
- Notes:
- Copyright © The Author(s) 2019. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
- Licence:
- CC Attribution (CC BY)
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