STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics.
Journal of neurodevelopmental disorders
Springer Science and Business Media LLC
MetadataShow full item record
O'Brien, S., Ng-Cordell, E., DDD Study,, Astle, D., Scerif, G., & Baker, K. (2019). STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics.. Journal of neurodevelopmental disorders, 11 (1), 17. https://doi.org/10.1186/s11689-019-9278-9
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.
DDD Study, Humans, Epilepsy, Language Development Disorders, Behavioral Symptoms, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Munc18 Proteins, Young Adult, Intellectual Disability, Social Skills, Neurodevelopmental Disorders
Baily Thomas Charitable Fund (TRUST/VC/AC/SG/4682-7597)
External DOI: https://doi.org/10.1186/s11689-019-9278-9
This record's URL: https://www.repository.cam.ac.uk/handle/1810/298007
Attribution 4.0 International
Licence URL: https://creativecommons.org/licenses/by/4.0/