Genetics to Functional Pathways in Neurodevelopmental Disorders

Neurodevelopmental disorders (NDDs) are caused by the disruption of essential neurodevelopmental processes. Many genes and mutations are associated with NDDs, pointing to a heterogeneous origin of these disorders.
Genotype–phenotype correlations are difficult to establish due to the existence of multiple genetic as well as environmental factors that influence the phenotypical outcome. The two-hit model and the existence of multiple molecular diagnoses are important factors that should be taken into account when addressing NDDs.
Most of the known NDDs genes belong to few common frequently affected molecular pathways. Functional and molecular studies elucidating how different mutations can disturb the converging pathways can lead to the identification of potential targets, thereby opening perspectives for future treatment.
https://www.cell.com/trends/neurosciences/fulltext/S0166-2236(20)30122-3