The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! – #S10e123
Three Todos:
1 – Come to the #SRFconf and be sure to buy dinner tickets!
https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund
2 – DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz
3 – Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)
https://www.eurekalert.org/news-releases/1006753
EEGS MATTER
To get an EEG Biomarker, you need to collect EEGs. Not simple.
This EEG from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997)
https://www.sciencedirect.com/science/article/pii/S2667174321000380
Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1
SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud)
Where’s our paper?
Beacon Biosignals is a company we know: https://beacon.bio/
You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you.
https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html
EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images). Check out Tony’s
https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
Episode 123 of #Syngap10 – November 3, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
