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West Syndrome
Toxic gain function

West Syndrome

  • Genotype

    CELF2

  • Mechanism

    Toxic gain function

  • Phenotype

    Hyperactivity, Seizures, Increased sensitivity to stimuli, Social isolation, Cognitive impairment, Aggression

  • Biomarker

    Glutamate, NfL, GABA, Cortisol

  • Gene Expression Markers

    SCN1A, GAD1, GRIN1, IL-1β, BAX, BCL2, DCX

  • Physiology Changes

    Postural Abnormalities, EEG - High-amplitude slow waves with multifocal spikes, Alternating high-voltage bursts and flat suppression periods, Lack of normal sleep architecture

  • Histology Grading Endpoint

    Disorganized cortical layering, Reduced synaptic density, Neuronal shrinkage and degeneration,  White matter rarefaction, Astrogliosis

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