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Common genetic variants, acting additively, are a major source of risk for autism
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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
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Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
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Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures
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The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex
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Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites
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Combined Social and Spatial Coding in a Descending Projection from the Prefrontal Cortex
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Atypicalities in the developmental trajectory of cortico-striatal functional connectivity in autism spectrum disorder
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Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis
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Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells
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Generation of human striatal organoids and cortico-striatal assembloids from human pluripotent stem cells
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Generation of Functional Human 3D Cortico-Motor Assembloids
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Engineering brain assembloids to interrogate human neural circuits
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Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome
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Human assembloids reveal the consequences of CACNA1G gene variants in the thalamocortical pathway
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Assembloid models of cell-cell interaction to study tissue and disease biology
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CAV-2 Vector Development and Gene Transfer in the Central and Peripheral Nervous Systems
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DARPP-32, Jack of All Trades… Master of Which?
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Dopamine and cyclic-AMP regulated phosphoprotein-32-dependent modulation of prefrontal cortical input and intercellular coupling in mouse accumbens spiny and aspiny neurons
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Unresolved referenced work
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Severe deficiency of the voltage-gated sodium channel NaV1.2 elevates neuronal excitability in adult mice
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Signal processing in the axon initial segment
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Structural and functional plasticity at the axon initial segment
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Aberrant axon initial segment plasticity and intrinsic excitability of ALS hiPSC motor neurons
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Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
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Viral vector-mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome
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Psychiatric risk factor ANK3/ankyrin-G nanodomains regulate the structure and function of glutamatergic synapses
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Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated Scn2a-deficiency
2025
Paradoxical hyperexcitability from NaV1.2 sodium channel loss in neocortical pyramidal cells
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Cell diversity and network dynamics in photosensitive human brain organoids
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Electrophysiological Maturation of Cerebral Organoids Correlates with Dynamic Morphological and Cellular Development
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Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture
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CRISPR activation for SCN2A-related neurodevelopmental disorders
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Upscaling biological complexity to boost neuronal and oligodendroglia maturation and improve in vitro developmental neurotoxicity (DNT) evaluation
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Progress in Understanding and Treating SCN2A-Mediated Disorders
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SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features
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Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology
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