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Ohtahara Syndrome
Loss of Function

Ohtahara Syndrome

  • Genotype

    STXBP1

  • Mechanism

    Loss of Function

  • Phenotype

    Seizures, Locomotor dysfunction, Startle Response, Touch-evoked escape response, Sleep/Wake Disturbances, Cognitive impairment, Social isolation 

  • Biomarker

    S100B, NfL, PSD-95, GABA, GFAP, BDNF, NSE

  • Gene Expression Markers

    STX1A, VAMP2, GAD1, GAD2, GABRA1, GABRB2, GRIN1, SCN1A

  • Physiology Changes

    EEG - Burst-suppression pattern, Reduced long-term potentiation, Frequent spikes and sharp waves, Irregular heart rate variability, Reduced muscle tone 

  • Histology Grading Endpoint

    Disorganized cortical layering, Reduced dendritic branching and spine density, Reduction in neuronal density,Impaired myelination

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