Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability.

ABSTRACT: Childhood speech and language deficits are highly prevalent and are a common feature of neurodevelopmental disorders. However, it is difficult to investigate the underlying causal pathways because many diagnostic groups have a heterogeneous aetiology. Studying disorders with a shared genetic cause and shared cognitive deficits can provide crucial insight into the cellular mechanisms and neural systems that give rise to those impairments. The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability. We used multiple structural neuroimaging methods to characterise neuroanatomy in this group, and observe

SUBMITTER: Bathelt J 

PROVIDER: S-EPMC5053034 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature