A 5'-UTR SNP of FGF13 impairs PTBP2 interacting with FGF13 mRNA, leading to reduced FGF13 translation and deficits in brain development and cognitive functions.

Modelling O-GlcNAc transferase intellectual disability reveals the roles of this post-translational modification in regulating normal axonal terminal morphology and maintaining appropriate sleep homeostasis, pharmacological and genetic rescues of O-GlcNAcylation highlight the complexities of addressing this disorder.

A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.

Forniceal deep brain stimulation is a promising treatment for several neuropsychiatric disorders as it upregulates synaptic and neurogenesis-associated genes, normalizes genes misregulated in Rett syndrome mice, and regulates genes altered in intellectual disability and major depression.

Partial reduction of CFIm25 protein levels leads to misregulated alternative polyadenylation in neurons and learning deficits.

Two mutations in TRPM3 resulting in developmental and epileptic encephalopathies result in a gain-of-channel function, which may lie at the basis of epileptic activity and neurodevelopmental symptoms in the patients.

Individuals with deletions or duplications of the NUDT21 gene have altered levels of MeCP2 protein and intellectual disabilities.

Physiological studies of SLC6A17 and its pathogenic mutations revealed that glutamine is transported into synaptic vesicles (SVs) in an SLC6A17-dependent manner and all pathogenic conditions reduced glutamine level in SVs.

Loss of Kirrel3 selectively reduces DG-GABA mossy fiber filopodia and causes CA3 neuron hyper-activity during brain development.

The regulation of Phf6 by miR-128 is a developmental timing mechanism that influences cortical lamination, neuronal morphology and intrinsic excitability.