Three studies published in Nature Genetics look at the identification of a common recessive neurodevelopmental disorder (NDD).
Researchers have developed an artificial intelligence (AI) approach that accelerates the identification of genes that contribute to neurodevelopmental conditions such as autism spectrum disorder, ...
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 ...
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.
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: ...
The debate on nature versus nurture has never ceased, particularly in discussions about neurodevelopmental conditions (NDCs) such as autism and attention-deficit hyperactivity disorder (ADHD). These ...