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Vanishing white matter
Missense Mutation - partial loss of function

Vanishing white matter

  • Genotype

    elF2B

  • Mechanism

    Missense Mutation - partial loss of function

  • Phenotype

    Gait abnormalities, Motor coordination , Exploratory behavior, Locomotor activity

  • Biomarker

    GFAP, Aquaporin 4, MBP

  • Gene Expression Markers

    EIF2B5, ATF4, DDIT3, MBP, PLP1, GFAP

  • Physiology Changes

    EEG - Abnormal cortical rhythm, Evoked potential response

  • Histology Grading Endpoint

    Loss of myelin structure, Vacuolization and Formation of cystic cavities

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