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Dravet Syndrome
 Scn1a - Loss of function

Dravet Syndrome

  • Genotype

    Scn1a

  • Mechanism

    Loss of function

  • Phenotype

     Seizures, Hyperactivity, Darting behavior, Sleep disorder, Aggression, Motor coordination, Thigmotaxis

  • Biomarker

    Troponin, CK, GFAP, TNF-α

  • Gene Expression Markers

    SCN1A, IL 6, IL-1β, SYNGAP1, PSD-95, GAD1, GABRA1

  • Physiology Changes

    EEG - Epileptiform Discharges, Myoclonic seizures, Generalized tonic clonic seizures

  • Histology Grading Endpoint

    Synaptic loss, Abnormal dendritic spines, Scattered neurons and Hyperactivation

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