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Knowledge Center
SOME RESOURCES WE FOUND HELPFUL

The SRF Webinar Series — where you can register for upcoming webinars or watch previous ones — is here.A remarkable source of knowledge is the GETA Conference Recordings, if you are looking for general knowledge about Genetic Epilepsy, start with those.

SynGAP

There are 3,000+ papers available on Google if you search for SynGAP, 2,300+ for SYNGAP1.  Where to begin?

  • SynGAP Global Network has a “What is SynGAP?” page that reviews the basics.
  • We have tried to count all the patient on earth, here is our current number.
  • Dr. Ingrid Sheffer published a review of 57 patients and characterized them in early ‘19.  This is the largest such study to date.  Every parent should read it and give it to their care team.  See our review and find a link to the paper here.  
  • An earlier paper that is also notable is Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy by Mignot et al., 2016
  • From here, a reader can go in countless directions, but we would suggest you read these two recent articles next.  This is because they are good news; cause for hope.
  • In this pre-print, Dr. Rumbaugh — one of our grantees — discusses how he was able to show “that treatments targeting certain debilitating aspects of SYNGAP1-related disorders may be effective throughout life.”  So even as adults, our kids could be helped by an effective treatment.
  • In this case study, Dr. Cook describes how Lovastatin, a widely available and relatively safe drug helped a SynGAP patient.

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