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Angelman syndrome
Loss of Function

Angelman syndrome

  • Genotype

    Ube3a

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor assay, Motor coordination, Episodic seizures, Cognition and Memory

  • Biomarker

    ACTN1, GFAP, BDNF

  • Gene Expression Markers

    MAP2, TUBB3, DLG4, GAD1, SYP

  • Physiology Changes

    EEG - Rhythmic theta activity and Epileptiform discharges

  • Histology Grading Endpoint

    Reduced dendritic spine density, Astrocyte activation and Neuronal size reduction

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