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Pitt–Hopkins Syndrome
Loss of Function

Pitt–Hopkins Syndrome

  • Genotype

    Tcf4 

  • Mechanism

    Loss of Function

  • Phenotype

    Hypoactivity, Motor coordination, Cogniyive impairment, Social isolation, Anxiety, Repetitive  behavior 

  • Biomarker

    BDNF, NfL, GFAP, Cortisol

  • Gene Expression Markers

    DCX, PSD95, GABRA1, GRIN1, SCN2A, NRXN1, CASP3

  • Physiology Changes

    Breathing abnormalities, EEG - Slowing of EEG rhythms, Theta activity, Event-Related Potentials, Disrupted sleep patterns

  • Histology Grading Endpoint

    Disorganized cortical layering, Decreased spine density, Reduced oligodendrocyte maturation, Microglial activation

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