iiinova — where your digital self keeps evolving

FamilieSCN2A Foundation @scn2a.bsky.social · 17/09/2025

🚨 Big news for the #SCN2A community 🚨 Landmark UCSF study shows CRISPR activation can restore SCN2A function — even later in development. A real step forward, and real hope, for families living with SCN2A-related disorders. www.prnewswire.com/news-release...

prnewswire.com

Landmark UCSF Study Demonstrates Functional Rescue of SCN2A Loss of Function, Underscoring the Potential of Regel Therapeutics' Targeted EpiEditing Platform.

/PRNewswire/ -- The laboratories of Dr. Kevin Bender and Dr. Nadav Ahituv at the University of California, San Francisco, today announced the publication of...

052

FamilieSCN2A Foundation @scn2a.bsky.social · 09/04/2025

We're proud to celebrate the opening of the #SCN2A / #SCN8A Multidisciplinary Clinic at Children’s Hospital Colorado, led by Dr. Megan Abbott. This clinic represents hope, progress, and a new chapter of support for our community. www.scn2a.org/news.html 💜💚💙

030

FamilieSCN2A Foundation @scn2a.bsky.social · 09/01/2025

📣 Please join us in congratulating Jennifer Kearney, PhD as this year’s MDBR awardee! Dr. Kearney created the first ever #SCN2a mouse model & also serves on the Foundation’s SAB. Thank you riders, volunteers and donors! Read more here: www.orphandiseasecenter.med.upenn.edu/awarded-gran...

060

FamilieSCN2A Foundation @scn2a.bsky.social · 17/12/2024

The much-anticipated recap of our experience at the #AES2024 is here! Check out how we kept #SCN2A front and center throughout this 4-day event! 👉 Read the full summary here: www.scn2a.org/AES-2024-Rec... 👉 Donate here: secure.qgiv.com/event/givesc... 💜💙💚 #CureSCN2A #GiftOfHope

011

FamilieSCN2A Foundation @scn2a.bsky.social · 12/12/2024

Our team proudly represented the #SCN2A community at #AES2024! Over 4 days, we worked tirelessly to spread awareness, educate, and collaborate on advancing care and treatments for SCN2A-related disorders. Each meeting and conversation reinforced the power of collaboration in driving progress!

050

FamilieSCN2A Foundation @scn2a.bsky.social · 22/11/2024

JUST PUBLISHED! Cambridge "SCN2A-Related Disorders" Written and edited by leading experts, this comprehensive review explores the clinical spectrum, genetics, and therapeutic advances surrounding SCN2A-related conditions. Open access made possible by FamilieSCN2A. www.scn2a.org/pdf/scn2arel...

scn2a.org

082

Reposted by FamilieSCN2A Foundation

Christina SanInocencio @csaninocencio.bsky.social · 12/11/2024

Hot off the press. New article, "Charting the Course to a Cure for #SCN2A related disorders" was just published today in Therapeutic Advances in Rare Disease. journals.sagepub.com/doi/10.1177/.... #rareepilepsy #autism #patientadvocacy

journals.sagepub.com

Sage Journals: Discover world-class research

Subscription and open access journals from Sage, the world's leading independent academic publisher.

093

Reposted by FamilieSCN2A Foundation

Kevin Bender @neurobender.bsky.social · 30/12/2023

New paper from @selinsch.bsky.social in collaboration with @alexkwan.bsky.social doi.org/10.1523/ENEU... Scn2a loss is a major ASD/ID risk, and it brings along comorbidities like epilepsy. Selin found that mouse models do just fine in foraging tasks, but the associated water restriction ⬆️ seizure

doi.org

Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency

Dysfunction in the gene SCN2A , which encodes the voltage-gated sodium channel Nav1.2, is strongly associated with neurodevelopmental disorders including autism spectrum disorder and intellectual disa...

0132

FamilieSCN2A Foundation @scn2a.bsky.social · 22/11/2024

✨ Big News! ✨ Seize the Moment. Move Mountains for SCN2A! We’re thrilled to announce that our 7th Family & Professional Conference is coming to Denver, Colorado on July 31-Aug 2, 2025! More details coming soon! 💙💚💜 #SCN2A #cureSCN2A #genetics #geneticeilepsy #autism #epilepsy

062