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 clinical genetics and neurology services UK-wide. Data was collected via standardised questionnaires administered to parents at home, supplemented by researcher observations. To isolate discriminating phenotypes, the STXBP1 group was compared to 33 individuals with pathogenic mutations in

SUBMITTER: O'Brien S 

PROVIDER: S-EPMC6683428 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature