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

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.

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 ...

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

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 seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

Risk was higher for mothers, rose with the number of affected children ...