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Autism Spectrum Disorder
 Shank3 - Loss of function, Fmr1 - Loss of function, Mecp2 - Loss of function

Autism Spectrum Disorder

  • Genotype

     Shank3, Fmr1, Mecp

  • Mechanism

     Shank3 - Loss of function, Fmr1 - Loss of function, Mecp2 - Loss of function

  • Phenotype

    Schooling,Aggression, Hyperactivity, Repetitive behavior, Social isolation, Explorator behavior

  • Biomarker

    GABA, SNAP 25, Neuregulin 1, Neurogranin, GFAP

  • Gene Expression Markers

    NRXN1, c-Fos, Egr1, NLGN3/4, SYP, GRIN1

  • Physiology Changes

    EEG - Epileptiform activity, Gamma oscillations and Alpha rhythm alterations

  • Histology Grading Endpoint

    Reduced dendritic spine density, Abnormal neuron size, Reduced myelination

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