The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! – #S10e123
1 – Come to the #SRFconf and be sure to buy dinner tickets!
2 – DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz
3 – Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)
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)
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.
EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images). Check out Tony’s
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Episode 123 of #Syngap10 – November 3, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat