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Developmental and Epileptic encephalopathies
Grin2d - Toxic gain function, KCNQ2 - Both, Dnm1 - Loss of function

Developmental and Epileptic encephalopathies

  • Genotype

    Grin2d, KCNQ2, Dnm1

  • Mechanism

    Grin2d - Toxic gain function, KCNQ2 - Both, Dnm1 - Loss of function

  • Phenotype

    Seizure episodes, Startle response, Hyperactivity, Motor coordination, Cognitive deficits

  • Biomarker

    C FOS, BDNF, GFAP

  • Gene Expression Markers

    GRIN1 / GRIN2B, SCN1A, KCNQ3, SYP

  • Physiology Changes

    EEG - Seizure frequency and spike and wave discharges

  • Histology Grading Endpoint

    Neuronal shrinkage, Degeneration and Loss

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