STXBP1 Epileptic Encephalopathy – Stxbp1 Mouse Model
Accelerate the availability of targeted therapies that improve the quality of lives of STXBP1 Epileptic Encephalopathy patients using the Stxbp1 mouse model
Stxbp1 Mouse Model Key Characteristics
Epileptic encephalopathies are defined as syndromes characterized by often drug-resistant seizures along with developmental delays or loss of developmental skills occurring due to sporadic (de novo) mutations. In line, de novo mutations in the STXBP1 gene (also known as Munc18-1) lead to the development of STXBP1 epileptic encephalopathy, characterized by infantile epilepsy, intellectual disability, and can include signs of autism spectrum disorders. To test the efficacy of novel therapies or disease-modifying treatments for STXBP1 epileptic encephalopathy, multiple research models can be used.
In line, the symptoms observed in STXBP1 patients can be mimicked using InnoSer’s Stxbp1 +/- mouse model. The Stxbp1 mice have a heterozygous loss of STXBP1 gene, providing a valid preclinical research model for STXBP1 haploinsufficiency. The reduction in STXBP1 protein recapitulates cognitive impairments, behavioral disturbances such as anxiety, and epileptic-like activity (spike-wave discharges [SWDs]). Similar to patients, both SWDs and motor deficits are frequently detected by us via wireless EEG, video, and accelerometer recordings in freely moving Stxbp1 +/- mice.
✓ Floxed null Stxbp1 mouse model maintained on a pure C57BL/6J genetic background.
✓ Model is extensively characterized, peer-reviewed, and published (Kovačević et al. 2018).
✓ Robust and reproducible cognitive impairment and behavioural disturbances.
✓ Epileptic-like activity in electroencephalography (EEG), and muscle twitches detected in electromyography (EMG).
✓ Anti-epileptic drugs Levetiracetam and Lamotrigine reduce epileptic-like activity, as detected by EEG.
✓ On-site breeding and biotechnical expertise at InnoSer allow efficacy testing of gene-targeting interventions as early as post-natal day 1 (PND1).
Take advantage of InnoSer’s expertise, flexibility, and collaborative approach for your research. We support you in identifying new drugs or applications, characterizing their pharmacological properties, and conducting safety and efficacy testing with state-of-the-art readout capabilities and histopathological analysis.
InnoSer’s neurology expert team possesses relevant experience in working with multiple therapy types.
Your STXBP1 Research Starts Here.
View study timelines, recommended readouts, and example data featuring behavioral and EEG tests in the Stxbp1 mouse model.
Stxbp1 Mouse Model Sample Data
In freely moving Stxbp1+/- mice with wireless EEG recording technology, we detect epileptic-like spike-wave discharges (SWD) that are automatically quantified.
These SWDs occasionally coincide with twitches that can be seen on video and are automatically detected by an accelerometer.
Stxbp1 +/- mice mimic cognitive impairments typically observed in STXBP1 epileptic patients that can be detected using a fear conditioning assay
Fear conditioning is a widely used test that measures aversive memory. In contextual fear conditioning, mice learn to pair an unconditioned stimulus with an aversive context. The so-called freezing response of the mouse is monitored to assess the extent to which the unconditioned stimulus is paired with the context. This test is both a measure of anxiety and cognition (learning and memory).
Stxbp1 +/- mice aged from 16 weeks to 20 weeks show stable epileptic-like phenotype.
Average frequency of SWDs per hour in the Stxbp1 +/- mice assessed over a period of several weeks (mean ± SEM).
The epilepsy-like phenotype in Stxbp1 +/- mice is suppressed with standard of care AEDs Levetiracetam and Lamotrigine.
Average frequency of detected SWDs during 6 hours of video recording following administration of saline, Levetiracetam (50 mg/kg, i.p,) and Lamotrigine (50 mg/kg, i.p.) (**P<0.01 saline vs Levetiracetam; ***P<0.001 saline vs Lamotrigine).
Stxbp1 Mouse Model Readouts
Biological Readouts
Test the efficacy of your treatments with the following biological readouts:
- Wireless electroencephalogram (EEG) to detect epileptic-like events (spike wave discharges; SWD)
- Wireless electromyography (EMG) of neck muscle to detect twitches and jumps
- Tissue collection for biomarker analyses
- Immunohistochemical analyses of neural activation (c-Fos)
Our Team’s Featured Publications
- Kovacevic, J., Maroteaux, G., Schut, D., Loos, M., Dubey, M., Pitsch, J., Remmelink, E., Koopmans, B., Crowley, J., Cornelisse, L. N., Sullivan, P. F., Schoch, S., Toonen, R. F., Stiedl, O., & Verhage, M. (2018). Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain : a journal of neurology, 141(5), 1350–1374. https://doi.org/10.1093/brain/awy046
The People Behind Your Research
Thomas Vogels, PhD, In Vivo Neurology Study Director
Leads an expert team of scientists with vast experience in our Neurology models to help you choose the right model and guide your optimal study design. We provide the solution to accelerating your drug development.
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