Genetics and Neurodevelopmental Disorders

This study shows that Stxbp1 haploinsufficiency in mice causes cognitive, psychiatric, and motor impairments and cortical hyperexcitability, similar to STXBP1 encephalopathy in humans.

This study shows that increasing HTT phosphorylation at Ser421 improves BDNF transport, striatal BDNF availability, and the phenotype of Mecp2 knockout mice.

This study shows that maternal experience-induced cortical plasticity in mice is circuit- and stimulus-specific, and requires Mecp2, with disrupted PV+ interneurons in Mecp2 mutants.

This study develops a mouse model of GNAO1 R209H mutation, showing hyperlocomotion that is alleviated by risperidone.

The paper investigates how mutations in distinct genes causing intellectual disability and autism affect neuronal network development, finding shared effects on excitability and synaptic function.

This study examines information processing deficits in a mouse model of Ehmt1 haploinsufficiency, showing abnormalities in sensory-motor gating and electrophysiological responses.

The paper shows that restoring over 5% FMRP expression or 20% FMRP-positive neurons in FXS neurons normalizes hyperactivity.

This study investigates how human-specific paralogs SRGAP2B and SRGAP2C modulate SRGAP2A-dependent synaptic development in human cortical neurons.

This study shows that FMRP KO in mice leads to increased spiking variability in CA1 neurons of adult hippocampus but not juveniles, linked to elevated SK currents.

This study shows that EHMT1 deficiency in human neurons leads to NMDAR hyperfunction, causing neuronal network dysfunction in Kleefstra syndrome, and demonstrates pharmacological rescue of these phenotypes.

This study shows that loss of FMRP in a mouse model of Fragile X Syndrome leads to increased single-spine excitation and more multiply-innervated spines, contributing to circuit hyperexcitability.

This study quantifies kinematic gait parameters during treadmill walking in Rett Syndrome patients, showing speed-related adaptations and significant joint asymmetries.

This study examines synapse-type and astrocytic changes in a FXS mouse model, revealing layer-specific synaptic density alterations and reduced astrocytic association in excitatory synapses.

The paper identifies Fragile X granules (FXGs) as a conserved axonal RNA-binding protein complex across mammals, showing developmental patterns and species-specific variations.

This study shows that cortical Foxp2 is essential for behavioral flexibility and dopamine D1 receptor expression, with effects on cell type composition and gene expression in the neonatal cortex.

This study shows that CYFIP1 haploinsufficiency in mice causes reduced brain functional connectivity and white matter defects, linking it to neuropsychiatric disorders like Autism and Schizophrenia.

This paper reports on 38 individuals with KMT2E variants, finding that heterozygous variants cause neurodevelopmental disorders, epilepsy, and variable expressivity by sex.

The paper identifies epigenomic signatures in NDD cortex samples, revealing shared regulatory functions and enrichment for genetic risk factors across different NDD types.

This study shows that deleting the autism risk gene Shank3 in mice disrupts prefrontal connectivity and is linked to social communication deficits.

This study compares lovastatin and simvastatin in a fragile X mouse model, finding lovastatin corrects neurological phenotypes while simvastatin does not.

This study investigates the effects of CNTNAP2 loss-of-function mutations in mice, finding reduced synaptic connectivity and altered oscillatory dynamics in the prefrontal cortex associated with autism-like behaviors.

This study shows that restoring SynGAP protein in adult Syngap1 heterozygous mice improves memory, seizure susceptibility, and brain activity patterns.

The paper profiles somatic L1Hs insertions in Rett patients and healthy controls, finding increased insertions in the brain and altered genomic patterns linked to MECP2 dysfunction.

This study uses MMN to show that females with Rett Syndrome have reduced duration sensory memory span compared to typically developing controls.

This study identifies NT5C2 as a psychiatric risk gene, showing its role in protein translation and AMPK signaling in neural progenitor cells and Drosophila melanogaster.

The paper integrates transcriptome data from human cells with impaired MECP2 to identify a network of genes involved in Rett syndrome and their regulatory mechanisms.

This study examines how the absence of FMRP affects neuronal network development in an in vitro model, finding that network-level changes are more pronounced than single-cell alterations.

This study uses ribosome profiling to show that Fmr1 loss in mice affects translation elongation and initiation, with reduced pausing and altered mRNA binding.

This study shows that DYRK1A haploinsufficiency leads to impaired neocortical circuit development, contributing to neurological symptoms in a syndrome related to Down syndrome.

This study shows that deleting the KH1 domain of Fmr1 in rats causes attention deficits and transcriptional changes in the medial prefrontal cortex, similar to FXS, and identifies potential therapeutic targets.