Knowledge Center

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.


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.


  • Our patients have some specific seizures which are well described in Sheffer’s paper, above as well as this paper from German researchers, see also the video below.
  • Beyond the SynGAP-specific seizures mentioned above there is vast amount of knowledge available at both the Epilepsy Foundation & CURE.
  • A Life Electric is a remarkable website and helpful way to learn about epilepsy, as well as teach others.

Ketogenic Diet

Putting a child on the powerful drugs that are used to treat our kids is not easy.  As a result many parents are turning to the oldest known treatment for Epilepsy, the Ketogenic Diet.  Many have had great outcomes.  We urge you to learn more about it.

  • Above is our presentation from 15 October 2019 & here is the PDF


The CBD presentation used in the 21 November 2019 is here in PDF.

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