Email: [email protected] about this study!

Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands.

All our kids will turn into adults and if you think people don’t understand our kids, wait till they turn into adults!  It’s worse.  There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more important.  BTW, soon we will have treated and untreated!  

Dr. Andrade and her team are the best in the world.  Dravet/SCN1A is “the one”

Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults…

https://pubmed.ncbi.nlm.nih.gov/33677403/

https://pubmed.ncbi.nlm.nih.gov/28186331/

https://pubmed.ncbi.nlm.nih.gov/22780858/

She’s even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/

We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/.  Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8

CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/

So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same.  So… this is our moment.

Please let us know how we can help you to finish these questionnaires: [email protected] 

Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada