KCNA2 is a gene encoding the Kv1.2 potassium channel. This channel allows potassium ions to leave the cell and helps facilitate the transmission of electrical signals between cells. Mutations in the KCNA2 gene can impact cellular function and contribute to a variety of rare conditions, including epileptic encephalopathy and others.
Pairnomix’s personalized genetic evaluation services are designed to identify clinically approved drugs that could be repurposed for the treatment of rare genetic conditions, such as those caused by KCNA2 mutations.
Our services involve creating a laboratory model of an individual’s genetic mutation and performing experiments to understand the impact of that mutation on cellular function. We then test more than 1,300 drugs against the modeled mutation for their abilities to reverse the mutation’s functional consequence. As a result, we can identify drugs that may have the potential to provide effective treatment. We provide our findings to the individual’s physician so together they can make better-informed treatment decisions. Click here to learn more about our services.
We are pleased to offer these services for eligible pathogenic KCNA2 mutations. Please contact us with interests and inquiries.