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thorough peer review, 12 out of 20 submissions were accepted, indicating that it is a hot area of research currently. The accepted articles encompass clinical genetic studies, case reports, methodological advancements, and analyses of genotype-phenotype correlations that collectively enhance our comprehension of the genetic architecture of neurodevelopmental disorders (Bagatelas, Khan, and Rushing 2025;Chen et al. 2025;Ge et al. 2025;Guerrera et al. 2026;H. Jiang et al. 2025;L. Jiang et al. 2025;Li et al. 2025;Li and Chen 2025;Napoli et al. 2025;Wang et al. 2025;Wu et al. 2025;Yan et al. 2025).Numerous studies in this compilation concentrated on discovering novel genetic variants and clinically delineating rare neurodevelopmental syndromes. Chen et al. (2025) published a full clinical and genetic study of ERCC8-related Cockayne Syndrome. They found that hepatic dysfunction could be a biomarker and that anhidrosis is a rare clinical feature.The authors also looked into the results of rehabilitation for ankle contractures, which gave them useful information about how to treat people who have them (Chen et al. 2025).Expanding the spectrum of structural genomic variations associated with neurological diseases, Jiang et al. (2025) identified a novel 9q21.13 microdeletion in a family presenting with epilepsy, intellectual disability, and speech impairment, emphasising the importance of CNV analysis in patients with unexplained neurodevelopmental phenotypes (L. Jiang et al. 2025). Chromosomal deletions affecting key developmental genes represent another important mechanism underlying these disorders. In this context, Ge et al. (2025) analysed cases with terminal 6q deletions and demonstrated that DLL1 haploinsufficiency contributes to prenatal brain anomalies in these patients. Their study highlights the role of genes involved in NOTCH signalling in early brain development and highlights the importance of prenatal genetic diagnoses for structural brain abnormalities to avert the birth of children with brain anomalies (Ge et al. 2025).In addition to central nervous system disorders, some studies have provided insights into neuromuscular diseases that share overlapping developmental and genetic mechanisms. Li et al. (2025) reported compound heterozygous variants in DYSF in a family affected by limbgirdle muscular dystrophy type 2B, expanding the mutational spectrum of this disorder and contributing to better genetic diagnosis and improved patient management (Li et al. 2025).ASD is one of the most genetically heterogeneous neurodevelopmental conditions. Guerrera et al. (2026) evaluated the genetic profile of autistic children and adolescents bearing minimal verbal abilities, a subgroup that often faces diagnostic as well as therapeutic challenges. Their findings portray the genetic architecture of severe ASD phenotypes and highlights the significance of integrating genomic analysis into clinical settings (Guerrera et al. 2026).In consensus with this "research topic", Wu et al. (2025) Nonetheless, mutations situated in conserved loop regions of CK2α, especially the glycinerich loop, correlated with heightened neurological symptomatology, an elevated incidence of hypotonia, and an expedited diagnosis. These findings yield significant insights into the structural and functional ramifications of these pathogenic variants (Bagatelas et al. 2025). Wang et al. (2025) used the FAERS database to carry out a signal-mining analysis of bad events in association with botulinum toxin type A. This has implications for its clinical use in patients affected with cerebral palsy (Wang et al. 2025). The study has addressed therapeutic safety or in other words pharmacovigilance aspects.Few case reports included in this issue have enriched the concept that the brain developmental gets affected on account of genetic variants. Jiang et al. (2025) identified biallelic variants in the MRPS36 gene associated with Leigh syndrome, a severe mitochondrial disorder characterised by progressive neurodegeneration. The results of their study added to our understanding of the function of mitochondrial ribosomal proteins in neurodevelopmental disorders (H. Jiang et al. 2025). Another study by Napoli et al. (2025), studied a complex neurodevelopmental syndrome and identified variants of MECP2 and GABBR1 genes, in association with the same. This highlights as to how concurrent genetic modifications lead to atypical phenotypes and developmental pathways (Napoli et al. 2025).A novel splice-site variant in SSR4 gene involved in congenital disorder of glycosylation type Iy, was identified by Li and Chen (2025), thereby broadening the mutation spectrum of glycosylation disorders impacting neurological development (Li and Chen 2025) In conclusion, this current edition "research topic" adds to the evolving field of neurodevelopmental genetics, illustrating the significant role of genomic technologies in clinical diagnosis and research and thereby, devising novel therapeutic interventions based on the functional implications of the significant biomarkers.