In recent years, scientists have identified hundreds of different genes associated with autism, a burst of discovery that has ...

A group of 20 patients with undiagnosed neurodevelopmental disorders ranging from severe to mild has now received a genetic diagnosis thanks to an international team of researchers at the GREGoR ...

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

Researchers from Children's Hospital of Philadelphia (CHOP) have identified a novel gene associated with neurodevelopmental disorders and epilepsy. The study, published in the American Journal of ...

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.

Why do mental health diagnoses so often overlap? New genetic research reveals shared roots and points toward more effective ...

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: ...

A large South Korean study published by The BMJ finds no increased risk of psychiatric or neurodevelopmental disorders, such ...