top of page
Phelan–McDermid Syndrome
Loss of Function

Phelan–McDermid Syndrome

  • Genotype

    Shank3

  • Mechanism

    Loss of Function

  • Phenotype

    Social isolation, Repetitive Behavior, Cognitive impairment, Locomotor activity, Anxiety, Touch evoke response, Sleep, Seizures

  • Biomarker

    PSD-95, GABA, BDNF, Glutamate, GFAP

  • Gene Expression Markers

    GRIN1,  GRIN2B, GRIA1, GRIA2, DRD1, DRD2, SOD1, MECP2 

  • Physiology Changes

    EEG - Reduced excitatory synaptic transmission, Reduced long-term potentiation, Disrupted gamma oscillations, Reduced spine density and maturation, Reduced REM/non-REM balance

  • Histology Grading Endpoint

    Reduced spine density, Reduced dendritic arbor complexity, Shortened dendritic length,Microglial activation, Thinner postsynaptic densities

bottom of page