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

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: ...

Pathologic changes of the X-chromosome gene for dystrophin give rise to Duchenne muscular dystrophy (DMD), and dystrophin -- which minimizes muscle fiber loss due to sarcolemma contraction damage when ...

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 ...

Paternal use of the anti-seizure medication valproate during spermatogenesis was not associated with a risk of congenital malformations or neurodevelopmental disorders in offspring, an observational ...

Exposure to SARS-CoV-2 infection during pregnancy was associated with a 29% greater risk of neurodevelopmental diagnosis by age 3 years. The largest effects were observed in third-trimester exposures, ...