Open access
Jul 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Variants in BRSK2, encoding brain specific kinase-2, have recently been associated with an autosomal dominant neurodevelopmental disorder (NDD). We have assembled 52 cases with heterozygous BRSK2 variants and variable neurodevelopmental phenotypes with frequent neuropsychiatric and behavioral symptoms. The variant spec...
Palak Singhal, Tzung-Chien Hsieh, Nadja Ehmke et al.
· European Journal of Human Ge... · 0 citations