Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

Monoallelic variants in BRSK1 are linked to a neurodevelopmental disorder with variable phenotypes, including developmental delay, anxiety, ADHD, autism, and seizures.

• Why it matters: Understanding the genetic basis of neurodevelopmental disorders can improve diagnosis and inform potential interventions, especially for rare variants with uncertain significance.
• What they did: Researchers identified nine individuals with heterozygous BRSK1 variants through genomic analysis and modeled three missense variants in Drosophila to assess their functional impact.
• The result: Findings suggest heterozygous loss of BRSK1 causes a neurodevelopmental syndrome with partial loss-of-function alleles impairing neuronal and synaptic phenotypes, supporting its role in neurodevelopment.