Differences in brain connectivity are linked to several neurodevelopmental disorders, yet scientists still struggle to ...

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, ...

Scientists at St. Jude Children's Research Hospital have found that they can reverse the effects of HNRNPH2-related ...

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: ...

CDG? Researchers have discovered a new congenital disorder of glycosylation (CDG) caused by a ribophorin I mutation that ...

Scientists are working hard to understand how brain disorders such as autism and schizophrenia begin. These conditions often ...

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