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Developmental disorders are a group of disorders in which the development of the central nervous system is disturbed. This can include developmental brain dysfunction, which can manifest as neuropsychiatric problems or impaired motor function, learning, language or non-verbal communication.
PACS1 syndrome is a neurodevelopmental disorder resulting from a de novo p.R203W variant in phosphofurin acidic cluster sorting protein 1 (PACS1). Here the authors use cortical organoids to investigate the impact of this variant on neurodevelopment.
Using an unbiased phenotypic cell-based high-throughput screen, the authors identify and characterize a small molecule, BCH-HSP-C01, that restores aberrant protein trafficking in neuronal models of adapter protein complex 4 deficiency.
A neurobiological study reveals Gtf2i’s pivotal roles in brain development and mediating neuronal mitochondrial function, validated by human brain samples derived from individuals with Williams syndrome.
An in vivo study in guinea pigs suggests that Toxoplasma gondii infects neurons, astroglia and neural stem cells (NPCs) in the fetal brain after its diaplacentar transmission leading to reduced numbers of NPCs and neurons, and microglia activation.
Using a systems-level, multi-omics approach, we reveal several genes associated with arachnoid cysts and identify four phenotypic subtypes of arachnoid cysts, the severity of which correlates with the presence of protein-damaging de novo variants. All candidate genes are expressed in the developing brain and encode molecules implicated in chromatin modification or transcriptional regulation.
Current diagnostic criteria for learning disorders are insufficient because of ongoing COVID-19-related educational disruption. Diagnostic criteria for learning disorders should be modified to reduce the risk of misdiagnosis and ensure timely intervention.
Cortical–subcortical fusion organoids replicate complex features of human brain activity and are used to explore altered network function in Rett syndrome.
A mismatch between cell adhesion proteins at the mossy fibre synapse drives female-specific synaptic and cognitive dysfunction in a mouse model of developmental and epileptic encephalopathy 9.