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Schizophrenia
Autosomal recessive - Loss of Function
 

Schizophrenia

  • Genotype

    DISC1, NRG1, G72
     

  • Mutation Type/Mechanism

    DISC1 - Loss of function, NRG1 - Loss of Function and G72 - Toxic gain function 

  • Phenotype

    Hyperactivity, Social isolation, Startle response, Anxiety, Cognitive deficits
     

  • Biomarker

    Neuregulin-1, Tyrosine hydroxylase (TH), BDNF
     

  • Gene Expression Markers

    DISC1, NRG1, DAOA , GRIN1 / GRIN2B,DRD2
     

  • Physiology Changes

    EEG - Reduced gamma oscillation Power and altered theta oscillations
     

  • Histology Grading Endpoint

    Cortical layer disorganization, Synaptic loss and neuronal disorganisation
     

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