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

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.

Scientists at St. Jude Children's Research Hospital have found 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: ...

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

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