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Loss of Function

Lennox-Gastaut Syndrome

  • Genotype

    Gabrb3

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor activity, Cognitive impairment, Motor coordination, Seizures, Social isolation, Anxiety

  • Biomarker

    BDNF, GABA, S100β, NfL

  • Gene Expression Markers

    gabra1, gabrg2, grin1, slc6a1, TNF-α, c-fos

  • Physiology Changes

    EEG - Slow spike-and-wave discharges, Hyperexcitability, Reduced REM and non-REM stability

  • Histology Grading Endpoint

    Neuronal cell loss in cortex and hippocampus, Shrunken neurons, Reduced synaptic density, Inflammatory cell infiltration

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