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Landau–Kleffner syndrome
Loss of Function

Landau–Kleffner syndrome

  • Genotype

    Grin2a KO

  • Mechanism

    Loss of Function

  • Phenotype

    Seizures, Social isolation, Cognitive impairment, Auditory response, Locomotor activity, Sensorimotor activity, Anxiety, Sleep

  • Biomarker

    S100B, NfL, BDNF, GFAP

  • Gene Expression Markers

    GRIN1, GRIN2B, c-FOS, EGR1, CREB1, SRPX2, IL1B, TNF-α, HOMER1

  • Physiology Changes

    EEG - Enhanced spike frequency and burst firing, Impaired long-term potentiation, Increased epileptiform activity during sleep, Disrupted theta rhythms

  • Histology Grading Endpoint

    Neuronal loss, Disrupted layer organization, Reduced spine density, Cortical disruption and Inflammation

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