A global collaboration involving University of Manchester scientists has discovered a gene whose variants potentially cause neurodevelopmental disorders (NDDs) in hundreds of thousands of people ...

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic ...

The Lurie Autism Institute presented its $100,000 award to Huda Zoghbi, a professor at the Baylor College of Medicine and the ...

Mutations (blue) in U2 snRNA cause a neurodevelopmental disorder about one-fifth as common as the RNU4-2/ReNU disorder, which is linked to mutations (orange) in U4 snRNA. snRNAs are shown in black, ...

Researchers have deepened our understanding of two of the five members of the CDKL family of genes, CDKL2 and CDKL1. They show that variants in these genes can lead to neurodevelopmental conditions, ...

Paternal use of the anti-seizure medication valproate during spermatogenesis was not associated with a risk of congenital malformations or neurodevelopmental disorders in offspring, an observational ...

The IQSEC2 gene encodes a guanine nucleotide exchange factor (Arf-GEF) that plays a critical role in synaptic regulation and neuronal development. Mutations in IQSEC2 have emerged as a significant ...

Children with neurodevelopmental disorders report congenital abnormalities, such as defects of the heart and/or urinary tract, at least ten times more frequent compared to other children. This is one ...

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 research group led by the University of Osaka has discovered that the DNA repair enzyme Polβ plays a crucial role in protecting the developing brain from harmful mutations. The study found that a ...