Recent research has highlighted the significant role of genetic factors in neurodevelopmental disorders, particularly focusing on specific gene variants. One study identified de novo and inherited variants in the DDX39B gene, which is crucial for mRNA metabolism and is part of the TREX complex. Six individuals from five families exhibited a range of symptoms including developmental delay, congenital hypotonia, and epilepsy, suggesting that DDX39B mutations may contribute to a novel neurodevelopmental syndrome (ref: Booth doi.org/10.1093/brain/). Another study explored the genetic landscape of infantile epileptic spasms syndrome, revealing that focal malformations of cortical development are often associated with specific genetic alterations. This study analyzed 59 children and found that genetic factors play a critical role in the etiology of this severe epilepsy, emphasizing the need for genetic screening in affected populations (ref: Coleman doi.org/10.1093/braincomms/). Additionally, research on cerebral cavernous malformations demonstrated that PIK3CA mutations are linked to a higher risk of hemorrhage compared to other mutations, indicating the importance of genetic profiling in managing these conditions (ref: Ren doi.org/10.1186/s40478-025-01940-1/). Overall, these studies underscore the complexity of neurodevelopmental disorders and the necessity for genetic insights to inform clinical practices and interventions.