Scientists have just identified a previously unknown neurodevelopmental disorder, giving families the diagnosis they've been ...

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

The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, ...

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 ...

Children born to mothers who used buprenorphine for opioid addiction during pregnancy do not have a greater risk of ...