Infantile Epileptic Encephalopathy (STXBP1/Munc18-1)
Accelerate the availability of targeted therapies that improve the quality of lives of STXBP1-epileptic encephalopathy patients
Patients receive a diverse range of primary diagnosis, including Ohtahara Syndrome, Dravet syndrome and atypical Rett syndrome. More information for patients and clinicians about this rare genetic disorder can be found on website of the STXBP1 Center Amsterdam.
Take advantage of InnoSer’s expertise, flexibility, and collaborative approach for your research. We support our clients 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.
Stxbp1 +/– key model characteristics:
- Floxed null Stxbp1 mouse model maintained on a pure C57BL/6J genetic background.
- Model is extensively characterised, 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 drug Levetiracetam reduces epileptic-like activity, as detected by EEG (Kovačević et al. 2018).
- On-site breeding and biotechnical expertise at InnoSer allow efficacy testing of gene targeting interventions as early as post-natal day 1.
Access example data featuring behavioural and EEG tests
Test the efficacy of your treatments in the following battery of behavioural tests:
- Fear conditioning
- Barnes maze reversal learning
- Elevated-plus maze and open-field
- Spontaneous behavior in automated home-cages
- 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)
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).
Related rare disease model options
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Vanishing White Matter
InnoSer has earned the AAALAC accreditation, demonstrating our commitment to responsible animal care and use. AAALAC International is a nonprofit organization that promotes the humane treatment of animals in science through voluntary accreditation and assessment programs. Our accreditation is valid for three years, incl. 2023. Read more about the AAALAC accreditation programme here.
The 3Rs impact everything from policy and regulatory change to the development and uptake of new technologies and approaches. This is why Innoser has ongoing commitment and monitoring of these processes. The steps we practice maximize our ability to replace, reduce and refine animal involvement and facilitate our commitment to these principles when it comes to research and drug development.
- Kovačević J, Maroteaux G, Schut D, Loos M, Dubey M, Pitsch J, Remmelink E, Koopmans B, Crowley J, Cornelisse LN, Sullivan PF. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain. 2018 May 1;141(5):1350-74.
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