On behalf of Syngap Research Fund and Ciitizen, we would like to invite you to sign up to access SYNGAP1 data on Ciitizen. As an academic researcher, you are able to access de-identified, standardized, normalized summaries of each participating patients' medical records including genetic test results, EEG results and much more from their medical record. Every patient in the dataset has a confirmed Pathogenic or Likely Pathogenic genetic diagnosis. Right now there is data for over 100 patients available and we are continually adding more.
Please contact us if you have any questions.
~Thank you for all your work and interest in Syngap1~