Infantile Epileptic Encephalopathy (STXBP1/Munc18-1)

Accelerate the availability of targeted therapies that improve the quality of lives of STXBP1-epileptic encephalopathy patients

Home » Neurology Research Models and Services  » Rare disease models – Infantile Epileptic Encephalopathy (STXBP1/Munc18-1)
De novo mutations in the STXBP1 (also known as Munc18-1) gene lead to early infantile epileptic encephalopathies that are characterized by infantile epilepsy, intellectual disability, and can include autistic features.  

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.

InnoSer offers services using a unique Stxbp1 +/- mouse model. Clinical symptoms observed in STXBP1 patients are mimicked in Stxbp1+/- mice with a heterozygous loss of this important gene. The reduction in STXBP1 protein recapitulates cognitive impairments, behavioural disturbances such as anxiety, and epileptic-like activity.

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

Infantile Epileptic Encephalopathy (STXBP1/Munc18-1) leaflet download

Key readouts

Test the efficacy of your treatments in the following battery of behavioural tests:

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)

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AAALAC Accreditation

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.

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Animal Welfare

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.

References

  • 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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