September is STXBP1 disorders awareness month, an initiative aimed at raising awareness of STXBP1-related rare genetic disorders, such as epileptic encephalopathy. Although STXBP1-related disorders are rare; STXBP1 is the 5th most common cause of genetic forms of epilepsy1. This raises the possibility to test both gene-targeting treatments and general anti-epileptic therapies in STXBP1 models. As seen below, the effect of such targeted treatments can be studied using the Stxbp1 +/- mouse model with robust and reproducible epileptic-like phenotypes.

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.
1Symonds, J. D., & McTague,et al. (2020). Epilepsy and developmental disorders: Next generation sequencing in the clinic. European Journal of Paediatric Neurology, 24, 15-23.

To help you fine-tune your lead compound’s bioavailability, InnoSer has ample experience in carrying out PK/PD studies and analyses. To ensure your compound’s safety, InnoSer can additionally perform safety pharmacology analyses.

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