Research graph
References from Autism-associated SCN2A deficiency disrupts cortico-striatal circuitry in human brain assembloids. Local targets link to admitted publications; unresolved targets remain external evidence.
Prevalence and early identification of autism spectrum disorder among children aged 4 and 8 years–Autism and Developmental Disabilities Monitoring Network, 16 sites, United States, 2022
10.15585/mmwr.ss7402a1 · 2025 · External reference
Common genetic variants, acting additively, are a major source of risk for autism
10.1186/2040-2392-3-9 · 2012 · External reference
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
10.1038/ng.835 · 2011 · External reference
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
10.1038/nature10945 · 2012 · External reference
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
10.1016/j.cell.2019.12.036 · 2020 · External reference
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
10.1038/ng.2980 · 2014 · External reference
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures
10.1016/j.biopsych.2017.01.009 · 2017 · External reference
The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex
10.1016/j.neuron.2019.05.037 · 2019 · External reference
Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites
10.1016/j.neuron.2024.01.003 · 2024 · External reference
Combined Social and Spatial Coding in a Descending Projection from the Prefrontal Cortex
10.1016/j.cell.2017.11.002 · 2017 · External reference
Atypicalities in the developmental trajectory of cortico-striatal functional connectivity in autism spectrum disorder
10.1177/13623613211041904 · 2022 · External reference
Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis
10.1038/s41593-023-01399-0 · 2023 · External reference
Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells
10.1016/j.stem.2021.04.006 · 2021 · External reference
Generation of human striatal organoids and cortico-striatal assembloids from human pluripotent stem cells
10.1038/s41587-020-00763-w · 2020 · External reference
Generation of Functional Human 3D Cortico-Motor Assembloids
10.1016/j.cell.2020.11.017 · 2020 · External reference
Engineering brain assembloids to interrogate human neural circuits
10.1038/s41596-021-00632-z · 2022 · External reference
Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome
10.1016/j.stem.2021.11.011 · 2022 · External reference
Human assembloids reveal the consequences of CACNA1G gene variants in the thalamocortical pathway
10.1016/j.neuron.2024.09.020 · 2024 · External reference
Assembloid models of cell-cell interaction to study tissue and disease biology
10.1016/j.stem.2024.09.017 · 2024 · External reference
CAV-2 Vector Development and Gene Transfer in the Central and Peripheral Nervous Systems
10.3389/fnmol.2019.00071 · 2019 · External reference
DARPP-32, Jack of All Trades… Master of Which?
10.3389/fnbeh.2011.00056 · 2011 · External reference
Dopamine and cyclic-AMP regulated phosphoprotein-32-dependent modulation of prefrontal cortical input and intercellular coupling in mouse accumbens spiny and aspiny neurons
10.1016/j.neuroscience.2007.11.019 · 2008 · External reference
Unresolved reference
2016 · External reference
Severe deficiency of the voltage-gated sodium channel NaV1.2 elevates neuronal excitability in adult mice
10.1016/j.celrep.2021.109495 · 2021 · External reference
Signal processing in the axon initial segment
10.1016/j.neuron.2012.01.007 · 2012 · External reference
Structural and functional plasticity at the axon initial segment
10.3389/fncel.2016.00250 · 2016 · External reference
Aberrant axon initial segment plasticity and intrinsic excitability of ALS hiPSC motor neurons
10.1016/j.celrep.2023.113509 · 2023 · External reference
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
10.1093/brain/awae125 · 2024 · External reference
Viral vector-mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome
10.1172/jci159316 · 2023 · External reference
Psychiatric risk factor ANK3/ankyrin-G nanodomains regulate the structure and function of glutamatergic synapses
10.1016/j.neuron.2014.10.010 · 2014 · External reference
Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated Scn2a-deficiency
2025 · External reference
Paradoxical hyperexcitability from NaV1.2 sodium channel loss in neocortical pyramidal cells
10.1016/j.celrep.2021.109483 · 2021 · External reference
Cell diversity and network dynamics in photosensitive human brain organoids
10.1038/nature22047 · 2017 · External reference
Electrophysiological Maturation of Cerebral Organoids Correlates with Dynamic Morphological and Cellular Development
10.1016/j.stemcr.2020.08.017 · 2020 · External reference
Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture
10.1038/nmeth.3415 · 2015 · External reference
CRISPR activation for SCN2A-related neurodevelopmental disorders
10.1038/s41586-025-09522-w · 2025 · External reference
Upscaling biological complexity to boost neuronal and oligodendroglia maturation and improve in vitro developmental neurotoxicity (DNT) evaluation
10.1016/j.reprotox.2022.03.017 · 2022 · External reference
Progress in Understanding and Treating SCN2A-Mediated Disorders
10.1016/j.tins.2018.03.011 · 2018 · External reference
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features
10.3390/brainsci12010018 · 2021 · External reference
Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology
10.1007/s13311-021-01137-z · 2021 · External reference
Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions
2024 · External reference
Little vector, big gene transduction: fragmented genome reassembly of adeno-associated virus
10.1038/mt.2009.280 · 2010 · External reference
What we can learn from the first personalized CRISPR-treated baby to tackle genetic brain disorders
10.1016/j.neuron.2025.10.023 · 2025 · External reference
Cortical layer–specific critical dynamics triggering perception
10.1126/science.aaw5202 · 2019 · External reference
A reference human induced pluripotent stem cell line for large-scale collaborative studies
10.1016/j.stem.2022.11.004 · 2022 · External reference
Hyperexcitability and pharmacological responsiveness of cortical neurons derived from human iPSCs carrying epilepsy-associated sodium channel NaV1.2-L1342P genetic variant
10.1523/jneurosci.0564-21.2021 · 2021 · External reference
SCANPY: large-scale single-cell gene expression data analysis
10.1186/s13059-017-1382-0 · 2018 · External reference
From Louvain to Leiden: guaranteeing well-connected communities
10.1038/s41598-019-41695-z · 2019 · External reference
fastp: an ultra-fast all-in-one FASTQ preprocessor
10.1093/bioinformatics/bty560 · 2018 · External reference
STAR: ultrafast universal RNA-seq aligner
10.1093/bioinformatics/bts635 · 2013 · External reference
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
10.1101/gr.107524.110 · 2010 · External reference
The GATK joint genotyping workflow is appropriate for calling variants in RNA-seq experiments
10.1186/s40104-019-0359-0 · 2019 · External reference
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
10.1093/bioinformatics/btt656 · 2014 · External reference
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
10.1186/s13059-014-0550-8 · 2014 · External reference
R: a language for data analysis and graphics
10.1080/10618600.1996.10474713 · 1996 · External reference
Normalization of RNA-seq data using factor analysis of control genes or samples
10.1038/nbt.2931 · 2014 · External reference
edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
10.1093/bioinformatics/btp616 · 2010 · External reference
clusterProfiler: an R package for comparing biological themes among gene clusters
10.1089/omi.2011.0118 · 2012 · External reference
Causal analysis approaches in Ingenuity Pathway Analysis
10.1093/bioinformatics/btt703 · 2014 · External reference
Complex heatmap visualization
10.1002/imt2.43 · 2022 · External reference
Unresolved reference
External reference
Fast, sensitive and accurate integration of single-cell data with Harmony
10.1038/s41592-019-0619-0 · 2019 · External reference
Improving homology-directed repair efficiency in human stem cells
10.1016/j.ymeth.2019.06.016 · 2019 · External reference
Controlling homology-directed repair outcomes in human stem cells with dCas9
2021 · External reference
A framework for neural organoids, assembloids and transplantation studies
10.1038/s41586-024-08487-6 · 2025 · External reference
PKA-RIIβ autophosphorylation modulates PKA activity and seizure phenotypes in mice
2021 · External reference
Robust myelination of regenerated axons induced by combined manipulations of GPR17 and microglia
10.1016/j.neuron.2020.09.016 · 2020 · External reference
