HCN1 VARIANTS IN HUMAN EPILEPSY
Mutations in the HCN1 gene are now a recognized cause of early life epilepsy and developmental disability. We have established an international HCN1 variant registry to understand how mutations in this gene correlate with the clinical course and response to antiepileptic drug therapy. We also seek to understand how HCN1 mutations alter the biophysical properties of Ih, the current generated by HCN1 channels.
Does your child or other family member have an HCN1 variant? Join our registry! We will ask you to sign a consent to allow us to add your clinical information to our registry, which will be kept confidential. Our growing registry is adding to our knowledge about how HCN1 mutations cause epilepsy and developmental disability, and hopefully in the future will give clinicians guidance as to which medications work best.
Questions? Download our consent form which describes the study in more detail, or email the Principal Investigator, Nicholas Poolos, MD, PhD (npoolos@uw.edu). We are happy to answer any questions.
Numerous HCN1 variants have already been discovered. This cartoon of the HCN1 channel structure shows locations of HCN1 variants reported in Marini et al, Brain 2018.