🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Happy to announce that we've partnered with Probably Genetic to make genetic testing more accessible. #scn2a #scn2afoundation #rarediseaseresearch bit.ly/3DHqrUu

Current Recruiting #Epilepsy Clinical Trails for Children from 1-18. In Purple - non drug / non-invasive, in green #scn2a specific. bit.ly/3qtyG3s #EpilepsyAwareness #epilepsysupport

We are excited to debut our latest patient documentary "From Coma to Cure: The Inspiring Tale of Battling Castleman Disease with Drug Repurposing." Click the link below to watch the full documentary! David Fajgenbaum, MD CDCN everycure.org/from-coma-to-c…

Curious about navigating the variants of uncertain significance (VUS) landscape? Join us for a live webinar presented on August 30 at 12 pm ET/ 9 am PT and earn CEUs by attending. Register today: invit.ae/3YvgtPy #genetictesting #GCchat

Patients with #SCN2A & #SCN8A developmental and epileptic encephalopathies (DEEs) are in desperate need of innovative therapies that address the root cause of their disease. Read more about our efforts to bring #clinicaltrials to patients in Global Genes: bit.ly/45fzQ1G.

For those forward looking #Autism parents, here are all of the currently recruiting autism clinical trials - both in the US and Globally. #autismawareness #autismmom #autismdad #scn2a bit.ly/3PdlZ6n

IF-MCT 16:8: Investigating the Influence of Intermittent Fasting With and Without MCTs in Patients With Drug-resistant Epilepsy dlvr.it/SvHBp0

A summary of naive thoughts triggered through the genetics and precision medicine sessions at #IEC2023. When to treat in the area of #Newbornscreening #PrecisionMedicine #diseasemodifying drugs. Interesting years ahead. Time to prepare NOW to maximize future opportunities.

This Thursday, Oct 26th at 2pm ET - join us on a live Q&A with Praxis Medicines to discuss Prax-562. Register here: bit.ly/45GlczN #scn2a #scn8a

Why every #RareDisease pt w/ epilepsy needs a personal repository of their own #EEG in .edf format. Shououts to Orrin Devinsky Beacon Biosignals FAST The Scn2a Foundation Feedback on this crazy idea welcome! Episode: #S10e123 Pod: #SYNGAP10 Gene: #SYNGAP1 Organization: SynGAP Research Fund (SRF)

Also mentioned in this episode, Beacon Biosignals, Helen Willsey, Dr. Heather Mefford @hcmefford.bsky.social, Jillian McKee, Boston Children's, The Scn2a Foundation, Invitae. Check it out here on @youtube youtube.com/watch?v=UeCvW_…

Merry Christmas to all who celebrate! #scn2a

New pre-print ready for this weeks international #SCN2A day: It’s established that missense variants can lead to a variety of different functional effects & subsequently different #SCN2A disorders. We explored, HOW variants change protein function biorxiv.org/content/10.110…

Today is International SCN2A Awareness Day. Through focus, unbelievable drive, and determination, the global community is driving these efforts forward. To continue these efforts, please consider donating: lnkd.in/e66HFSy3 #scn2a #curescn2a

We are celebrating International #SCN2AAwarenessDay w/our friends at @scn2aaustralia, @familiescn2a, The Scn2a Foundation and SCN2A Europe! We have 315 participants with #SCN2A -related disorder registered in #SimonsSearchlight Find resources, data reports and more: bit.ly/SimonsSearchli…

Our son Jack suffers from uncontrollable seizures and we've been pivoted our lives to focus on finding a cure for him. This morning, Siqi Chen donated $MIRA to The SCN2A Foundation The Scn2a Foundation to accelerate our work in saving my son. Thank you so much Siqi Chen! What an amazing

Even in the vastness of space, hope shines bright. Spreading awareness for #SCN2A one star at a time. #RareButNotAlone #SCN2AAwarenessDay #SCN2AFoundation #toinfinityandbeyond

Today we celebrate all the parent-advocates who've earned their honorary medical degrees through sleepless nights and endless appointments. #RareParents #RareDiseaseDay2025 #SCN2A