Mutations in the CASK gene, which encodes a multidomain scaffolding protein critical for neuronal development and synaptic organisation, have been increasingly implicated in a broad spectrum of ...

The ARX gene, which encodes a paired-type homeobox transcription factor, is crucial in forebrain development and interneuron specification. Mutations in ARX have been implicated in a spectrum of ...

Recent announcements by the US Government linking paracetamol use during pregnancy to autism in offspring highlight the risks of misinterpreting observational research to inform policy; this is a ...

Schinzel–Giedion syndrome (SGS), caused by missense variants in the degron region, leading to toxic gain-of-function. SETBP1 haploinsufficiency, typically caused by truncating mutations or deletions.

For babies born with alternative hemiplegia of childhood (AHC), an extremely rare and severe neurodevelopmental disorder, there may be no obvious symptoms for several months. Then the attacks begin: ...

At the recent American Society of Human Genetics meeting, researchers from Stanford University reported clinical and functional evidence of the involvement of ARHGAP1, a Rho GTPase-activating protein ...

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...

Researchers have developed an artificial intelligence (AI) approach that accelerates the identification of genes that contribute to neurodevelopmental conditions such as autism spectrum disorder, ...

Living near green spaces before and during pregnancy as well as in early childhood is associated with a reduced risk of neurodevelopmental disorders, according to Rutgers Health researchers. The ...

Mutations in a histone regulator protein are linked to both a rare neurodevelopmental disorder and to some cancers, according to a study published in the journal Genes and Development. Marc Morgan, ...