Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability, with
additional symptoms including attention deficit and hyperactivity, anxiety, impulsivity, and …

Rationale Muscarinic acetylcholine receptors (mAChR) are G protein-coupled receptors,
widely expressed in the CNS. Electrophysiological and molecular studies have provided …

Deletions encompassing the BP1-2 region at 15q11. 2 increase schizophrenia and epilepsy
risk, but only some carriers have either disorder. To investigate the role of CYFIP1, a gene …

Anxiety and social deficits, often involving communication impairment, are fundamental
clinical features of fragile X syndrome. There is growing evidence that dysregulation in …

Copy number variants are deletions and duplications of a few thousand to million base pairs
and are associated with extraordinarily high levels of autism spectrum disorder …

The primary cilium is the non-motile cilium present in most mammalian cell types and
functions as an antenna for cells to sense signals. Ablating primary cilia in postnatal …

In fragile X syndrome (FXS), sensory hypersensitivity and impaired habituation is thought to
result in attention overload and various behavioral abnormalities in reaction to the excessive …

The prevalence, age of onset and symptomatology of many neurodevelopmental disorders
strongly differ between genders. This review examines sex biases in human …

Fragile X syndrome is the most common monogenetic form of intellectual disability and
autism. Although the Fmr1 knockout mouse model recapitulates many aspects of the human …

Key points Fragile X syndrome (FXS) is a genetic condition that is the most common form of
inherited intellectual impairment and causes a range of neurodevelopmental complications …