Associated Papers
Human microglia in brain assembloids display region-specific diversity and respond to hyperexcitable neurons carrying SCN2A mutation.
Wu J et al.
Science Advances, 2026
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.
Tan M et al.
Epilepsia, 2026
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
Noncoding de novo mutations in SCN2A are associated with autism spectrum disorders.
Zhang Y et al.
Iscience, 2025
Gene therapies alleviate absence epilepsy associated with Scn2a deficiency in DBA/2J mice.
Zhang Z et al.
Biorxiv : the Preprint Server for Biology, 2025
Human microglia in brain assembloids display region-specific diversity and respond to hyperexcitable neurons carrying SCN2A mutation: Microglial diversity and response in assembloids.
Wu J et al.
Biorxiv : the Preprint Server for Biology, 2025
Autism-associated SCN2A deficiency disrupts cortico-striatal circuitry in human brain assembloids.
Chen X et al.
Biorxiv : the Preprint Server for Biology, 2025
Noncoding de novo mutations in SCN2A are associated with autism spectrum disorders.
Zhang Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.
DiStefano N et al.
Journal of Clinical Medicine, 2025
Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated Scn2a-deficiency.
Zhang J et al.
Biorxiv : the Preprint Server for Biology, 2025
Human pluripotent stem cell (hPSC)-derived models for autism spectrum disorder drug discovery.
Nie L et al.
Expert Opinion on Drug Discovery, 2025
Autism spectrum disorder and various mechanisms behind it.
Rajabi P et al.
Pharmacology, Biochemistry, and Behavior, 2024
Microglial over-pruning of synapses during development in autism-associated SCN2A-deficient mice and human cerebral organoids.
Wu J et al.
Molecular Psychiatry, 2024
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Microglial over-pruning of synapses during development in autism-associated SCN2A-deficient mice and human cerebral organoids.
Yang Y et al.
Research Square, 2023
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi P et al.
Neuron, 2023
ACNP 61st Annual Meeting: Poster Abstracts P271-P540.
Unknown Author
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G et al.
Communications Biology, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Zhang Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H et al.
Nature Communications, 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann A et al.
Molecular Medicine (cambridge, Mass.), 2019
Progress in Understanding and Treating SCN2A-Mediated Disorders.
Sanders SJ et al.
Trends in Neurosciences, 2018
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
Ben-Shalom R et al.
Biological Psychiatry, 2017
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.
Luhrs K et al.
Autism Research and Treatment, 2017
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.
Jiang YH et al.
Critical Reviews in Clinical Laboratory Sciences, 2014
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
Hoischen A et al.
Nature Neuroscience, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL et al.
Epilepsia, 2014