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STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics

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 systemat...

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Detalles Bibliográficos
Autores principales: O’Brien, Sinéad, Ng-Cordell, Elise, Astle, Duncan E., Scerif, Gaia, Baker, Kate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683428/
https://www.ncbi.nlm.nih.gov/pubmed/31387522
http://dx.doi.org/10.1186/s11689-019-9278-9